SNP Links for Protein (Select 767923977) - SNP

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Links from Protein

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Select item 14903756911.

rs1490375691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:38739658 (GRCh38)
3:38781149 (GRCh37)
Canonical SPDI:: NC_000003.12:38739657:C:G,NC_000003.12:38739657:C:T
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38739658C>G, NC_000003.12:g.38739658C>T, NC_000003.11:g.38781149C>G, NC_000003.11:g.38781149C>T, NG_031891.3:g.81559G>C, NG_031891.3:g.81559G>A, NG_031891.2:g.59353G>C, NG_031891.2:g.59353G>A, NM_006514.4:c.2137G>C, NM_006514.4:c.2137G>A, NM_006514.3:c.2137G>C, NM_006514.3:c.2137G>A, NM_006514.2:c.2137G>C, NM_006514.2:c.2137G>A, NM_001293306.2:c.2137G>C, NM_001293306.2:c.2137G>A, NM_001293306.1:c.2137G>C, NM_001293306.1:c.2137G>A, NM_001293307.2:c.1843G>C, NM_001293307.2:c.1843G>A, NM_001293307.1:c.1843G>C, NM_001293307.1:c.1843G>A, XM_005265371.4:c.2146G>C, XM_005265371.4:c.2146G>A, XM_005265371.3:c.2146G>C, XM_005265371.3:c.2146G>A, XM_005265371.2:c.2146G>C, XM_005265371.2:c.2146G>A, XM_005265371.1:c.2146G>C, XM_005265371.1:c.2146G>A, XM_011533993.3:c.2146G>C, XM_011533993.3:c.2146G>A, XM_011533993.2:c.2146G>C, XM_011533993.2:c.2146G>A, XM_011533993.1:c.2146G>C, XM_011533993.1:c.2146G>A, XM_011533994.3:c.1852G>C, XM_011533994.3:c.1852G>A, XM_011533994.2:c.1852G>C, XM_011533994.2:c.1852G>A, XM_011533994.1:c.1852G>C, XM_011533994.1:c.1852G>A, NP_006505.4:p.Val713Leu, NP_006505.4:p.Val713Ile, NP_001280235.2:p.Val713Leu, NP_001280235.2:p.Val713Ile, NP_001280236.2:p.Val615Leu, NP_001280236.2:p.Val615Ile, XP_005265428.1:p.Val716Leu, XP_005265428.1:p.Val716Ile, XP_011532295.1:p.Val716Leu, XP_011532295.1:p.Val716Ile, XP_011532296.1:p.Val618Leu, XP_011532296.1:p.Val618Ile

Select item 14883598152.

rs1488359815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:38725290 (GRCh38)
3:38766781 (GRCh37)
Canonical SPDI:: NC_000003.12:38725289:T:A,NC_000003.12:38725289:T:G
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000145/4 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000003.12:g.38725290T>A, NC_000003.12:g.38725290T>G, NC_000003.11:g.38766781T>A, NC_000003.11:g.38766781T>G, NG_031891.3:g.95927A>T, NG_031891.3:g.95927A>C, NG_031891.2:g.73721A>T, NG_031891.2:g.73721A>C, NM_006514.4:c.3112A>T, NM_006514.4:c.3112A>C, NM_006514.3:c.3112A>T, NM_006514.3:c.3112A>C, NM_006514.2:c.3112A>T, NM_006514.2:c.3112A>C, NM_001293307.2:c.2818A>T, NM_001293307.2:c.2818A>C, NM_001293307.1:c.2818A>T, NM_001293307.1:c.2818A>C, NM_001293306.2:c.3109A>T, NM_001293306.2:c.3109A>C, NM_001293306.1:c.3109A>T, NM_001293306.1:c.3109A>C, NG_053903.1:g.3255T>A, NG_053903.1:g.3255T>G, XM_005265371.4:c.3121A>T, XM_005265371.4:c.3121A>C, XM_005265371.3:c.3121A>T, XM_005265371.3:c.3121A>C, XM_005265371.2:c.3121A>T, XM_005265371.2:c.3121A>C, XM_005265371.1:c.3121A>T, XM_005265371.1:c.3121A>C, XM_011533993.3:c.3118A>T, XM_011533993.3:c.3118A>C, XM_011533993.2:c.3118A>T, XM_011533993.2:c.3118A>C, XM_011533993.1:c.3118A>T, XM_011533993.1:c.3118A>C, XM_011533994.3:c.2827A>T, XM_011533994.3:c.2827A>C, XM_011533994.2:c.2827A>T, XM_011533994.2:c.2827A>C, XM_011533994.1:c.2827A>T, XM_011533994.1:c.2827A>C, NP_006505.4:p.Arg1038Trp, NP_001280236.2:p.Arg940Trp, NP_001280235.2:p.Arg1037Trp, XP_005265428.1:p.Arg1041Trp, XP_011532295.1:p.Arg1040Trp, XP_011532296.1:p.Arg943Trp

Select item 14882867583.

rs1488286758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38698512 (GRCh38)
3:38740003 (GRCh37)
Canonical SPDI:: NC_000003.12:38698511:T:C
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.38698512T>C, NC_000003.11:g.38740003T>C, NG_031891.3:g.122705A>G, NG_031891.2:g.100499A>G, NM_006514.4:c.4708A>G, NM_006514.3:c.4708A>G, NM_006514.2:c.4708A>G, NM_001293306.2:c.4705A>G, NM_001293306.1:c.4705A>G, NM_001293307.2:c.4414A>G, NM_001293307.1:c.4414A>G, XM_005265371.4:c.4717A>G, XM_005265371.3:c.4717A>G, XM_005265371.2:c.4717A>G, XM_005265371.1:c.4717A>G, XM_011533993.3:c.4714A>G, XM_011533993.2:c.4714A>G, XM_011533993.1:c.4714A>G, XM_011533994.3:c.4423A>G, XM_011533994.2:c.4423A>G, XM_011533994.1:c.4423A>G, NP_006505.4:p.Thr1570Ala, NP_001280235.2:p.Thr1569Ala, NP_001280236.2:p.Thr1472Ala, XP_005265428.1:p.Thr1573Ala, XP_011532295.1:p.Thr1572Ala, XP_011532296.1:p.Thr1475Ala

Select item 14880760504.

rs1488076050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:38697844 (GRCh38)
3:38739335 (GRCh37)
Canonical SPDI:: NC_000003.12:38697843:C:A,NC_000003.12:38697843:C:T
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38697844C>A, NC_000003.12:g.38697844C>T, NC_000003.11:g.38739335C>A, NC_000003.11:g.38739335C>T, NG_031891.3:g.123373G>T, NG_031891.3:g.123373G>A, NG_031891.2:g.101167G>T, NG_031891.2:g.101167G>A, NM_006514.4:c.5376G>T, NM_006514.4:c.5376G>A, NM_006514.3:c.5376G>T, NM_006514.3:c.5376G>A, NM_006514.2:c.5376G>T, NM_006514.2:c.5376G>A, NM_001293306.2:c.5373G>T, NM_001293306.2:c.5373G>A, NM_001293306.1:c.5373G>T, NM_001293306.1:c.5373G>A, NM_001293307.2:c.5082G>T, NM_001293307.2:c.5082G>A, NM_001293307.1:c.5082G>T, NM_001293307.1:c.5082G>A, XM_005265371.4:c.5385G>T, XM_005265371.4:c.5385G>A, XM_005265371.3:c.5385G>T, XM_005265371.3:c.5385G>A, XM_005265371.2:c.5385G>T, XM_005265371.2:c.5385G>A, XM_005265371.1:c.5385G>T, XM_005265371.1:c.5385G>A, XM_011533993.3:c.5382G>T, XM_011533993.3:c.5382G>A, XM_011533993.2:c.5382G>T, XM_011533993.2:c.5382G>A, XM_011533993.1:c.5382G>T, XM_011533993.1:c.5382G>A, XM_011533994.3:c.5091G>T, XM_011533994.3:c.5091G>A, XM_011533994.2:c.5091G>T, XM_011533994.2:c.5091G>A, XM_011533994.1:c.5091G>T, XM_011533994.1:c.5091G>A, NP_006505.4:p.Leu1792Phe, NP_001280235.2:p.Leu1791Phe, NP_001280236.2:p.Leu1694Phe, XP_005265428.1:p.Leu1795Phe, XP_011532295.1:p.Leu1794Phe, XP_011532296.1:p.Leu1697Phe

Select item 14868049595.

rs1486804959 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAGGCAGATATAACCAT>- [Show Flanks]
Chromosome:: 3:38757131 (GRCh38)
3:38798622 (GRCh37)
Canonical SPDI:: NC_000003.12:38757129:TTAAGGCAGATATAACCAT:T
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38757131_38757148del, NC_000003.11:g.38798622_38798639del, NG_031891.3:g.64070_64087del, NG_031891.2:g.41864_41881del, NM_006514.4:c.963_980del, NM_006514.3:c.963_980del, NM_006514.2:c.963_980del, NM_001293306.2:c.963_980del, NM_001293306.1:c.963_980del, NM_001293307.2:c.963_980del, NM_001293307.1:c.963_980del, XM_005265371.4:c.972_989del, XM_005265371.3:c.972_989del, XM_005265371.2:c.972_989del, XM_005265371.1:c.972_989del, XM_011533993.3:c.972_989del, XM_011533993.2:c.972_989del, XM_011533993.1:c.972_989del, XM_011533994.3:c.972_989del, XM_011533994.2:c.972_989del, XM_011533994.1:c.972_989del, NP_006505.4:p.Asp321_Lys327delinsGlu, NP_001280235.2:p.Asp321_Lys327delinsGlu, NP_001280236.2:p.Asp321_Lys327delinsGlu, XP_005265428.1:p.Asp324_Lys330delinsGlu, XP_011532295.1:p.Asp324_Lys330delinsGlu, XP_011532296.1:p.Asp324_Lys330delinsGlu

Select item 14865737926.

rs1486573792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:38697623 (GRCh38)
3:38739114 (GRCh37)
Canonical SPDI:: NC_000003.12:38697622:A:C
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.38697623A>C, NC_000003.11:g.38739114A>C, NG_031891.3:g.123594T>G, NG_031891.2:g.101388T>G, NM_006514.4:c.5597T>G, NM_006514.3:c.5597T>G, NM_006514.2:c.5597T>G, NM_001293306.2:c.5594T>G, NM_001293306.1:c.5594T>G, NM_001293307.2:c.5303T>G, NM_001293307.1:c.5303T>G, XM_005265371.4:c.5606T>G, XM_005265371.3:c.5606T>G, XM_005265371.2:c.5606T>G, XM_005265371.1:c.5606T>G, XM_011533993.3:c.5603T>G, XM_011533993.2:c.5603T>G, XM_011533993.1:c.5603T>G, XM_011533994.3:c.5312T>G, XM_011533994.2:c.5312T>G, XM_011533994.1:c.5312T>G, NP_006505.4:p.Val1866Gly, NP_001280235.2:p.Val1865Gly, NP_001280236.2:p.Val1768Gly, XP_005265428.1:p.Val1869Gly, XP_011532295.1:p.Val1868Gly, XP_011532296.1:p.Val1771Gly

Select item 14865702257.

rs1486570225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38712251 (GRCh38)
3:38753742 (GRCh37)
Canonical SPDI:: NC_000003.12:38712250:C:T
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38712251C>T, NC_000003.11:g.38753742C>T, NG_031891.3:g.108966G>A, NG_031891.2:g.86760G>A, NM_006514.4:c.3999G>A, NM_006514.3:c.3999G>A, NM_006514.2:c.3999G>A, NM_001293306.2:c.3996G>A, NM_001293306.1:c.3996G>A, NM_001293307.2:c.3705G>A, NM_001293307.1:c.3705G>A, XM_005265371.4:c.4008G>A, XM_005265371.3:c.4008G>A, XM_005265371.2:c.4008G>A, XM_005265371.1:c.4008G>A, XM_011533993.3:c.4005G>A, XM_011533993.2:c.4005G>A, XM_011533993.1:c.4005G>A, XM_011533994.3:c.3714G>A, XM_011533994.2:c.3714G>A, XM_011533994.1:c.3714G>A

Select item 14865284548.

rs1486528454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38793759 (GRCh38)
3:38835250 (GRCh37)
Canonical SPDI:: NC_000003.12:38793758:C:T
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000318/5 (TOMMO)
HGVS:: NC_000003.12:g.38793759C>T, NC_000003.11:g.38835250C>T, NG_031891.3:g.27458G>A, NG_031891.2:g.5252G>A, NM_006514.4:c.252G>A, NM_006514.3:c.252G>A, NM_006514.2:c.252G>A, NM_001293306.2:c.252G>A, NM_001293306.1:c.252G>A, NM_001293307.2:c.252G>A, NM_001293307.1:c.252G>A, XM_005265371.4:c.252G>A, XM_005265371.3:c.252G>A, XM_005265371.2:c.252G>A, XM_005265371.1:c.252G>A, XM_011533993.3:c.252G>A, XM_011533993.2:c.252G>A, XM_011533993.1:c.252G>A, XM_011533994.3:c.252G>A, XM_011533994.2:c.252G>A, XM_011533994.1:c.252G>A

Select item 14865270179.

rs1486527017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38793995 (GRCh38)
3:38835486 (GRCh37)
Canonical SPDI:: NC_000003.12:38793994:C:T
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.38793995C>T, NC_000003.11:g.38835486C>T, NG_031891.3:g.27222G>A, NG_031891.2:g.5016G>A, NM_006514.4:c.16G>A, NM_006514.3:c.16G>A, NM_006514.2:c.16G>A, NM_001293306.2:c.16G>A, NM_001293306.1:c.16G>A, NM_001293307.2:c.16G>A, NM_001293307.1:c.16G>A, XM_005265371.4:c.16G>A, XM_005265371.3:c.16G>A, XM_005265371.2:c.16G>A, XM_005265371.1:c.16G>A, XM_011533993.3:c.16G>A, XM_011533993.2:c.16G>A, XM_011533993.1:c.16G>A, XM_011533994.3:c.16G>A, XM_011533994.2:c.16G>A, XM_011533994.1:c.16G>A, NP_006505.4:p.Gly6Arg, NP_001280235.2:p.Gly6Arg, NP_001280236.2:p.Gly6Arg, XP_005265428.1:p.Gly6Arg, XP_011532295.1:p.Gly6Arg, XP_011532296.1:p.Gly6Arg

Select item 148651300210.

rs1486513002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:38698434 (GRCh38)
3:38739925 (GRCh37)
Canonical SPDI:: NC_000003.12:38698433:G:C
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38698434G>C, NC_000003.11:g.38739925G>C, NG_031891.3:g.122783C>G, NG_031891.2:g.100577C>G, NM_006514.4:c.4786C>G, NM_006514.3:c.4786C>G, NM_006514.2:c.4786C>G, NM_001293306.2:c.4783C>G, NM_001293306.1:c.4783C>G, NM_001293307.2:c.4492C>G, NM_001293307.1:c.4492C>G, XM_005265371.4:c.4795C>G, XM_005265371.3:c.4795C>G, XM_005265371.2:c.4795C>G, XM_005265371.1:c.4795C>G, XM_011533993.3:c.4792C>G, XM_011533993.2:c.4792C>G, XM_011533993.1:c.4792C>G, XM_011533994.3:c.4501C>G, XM_011533994.2:c.4501C>G, XM_011533994.1:c.4501C>G, NP_006505.4:p.Leu1596Val, NP_001280235.2:p.Leu1595Val, NP_001280236.2:p.Leu1498Val, XP_005265428.1:p.Leu1599Val, XP_011532295.1:p.Leu1598Val, XP_011532296.1:p.Leu1501Val

Select item 148541775211.

rs1485417752 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:38713982 (GRCh38)
3:38755473 (GRCh37)
Canonical SPDI:: NC_000003.12:38713979:AGAG:AG
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38713980AG[1], NC_000003.11:g.38755471AG[1], NG_031891.3:g.107234CT[1], NG_031891.2:g.85028CT[1], NM_006514.4:c.3781_3782del, NM_006514.3:c.3781_3782del, NM_006514.2:c.3781_3782del, NM_001293306.2:c.3778_3779del, NM_001293306.1:c.3778_3779del, NM_001293307.2:c.3487_3488del, NM_001293307.1:c.3487_3488del, XM_005265371.4:c.3790_3791del, XM_005265371.3:c.3790_3791del, XM_005265371.2:c.3790_3791del, XM_005265371.1:c.3790_3791del, XM_011533993.3:c.3787_3788del, XM_011533993.2:c.3787_3788del, XM_011533993.1:c.3787_3788del, XM_011533994.3:c.3496_3497del, XM_011533994.2:c.3496_3497del, XM_011533994.1:c.3496_3497del, NP_006505.4:p.Leu1261fs, NP_001280235.2:p.Leu1260fs, NP_001280236.2:p.Leu1163fs, XP_005265428.1:p.Leu1264fs, XP_011532295.1:p.Leu1263fs, XP_011532296.1:p.Leu1166fs

Select item 148462682112.

rs1484626821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:38698420 (GRCh38)
3:38739911 (GRCh37)
Canonical SPDI:: NC_000003.12:38698419:G:A
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.38698420G>A, NC_000003.11:g.38739911G>A, NG_031891.3:g.122797C>T, NG_031891.2:g.100591C>T, NM_006514.4:c.4800C>T, NM_006514.3:c.4800C>T, NM_006514.2:c.4800C>T, NM_001293306.2:c.4797C>T, NM_001293306.1:c.4797C>T, NM_001293307.2:c.4506C>T, NM_001293307.1:c.4506C>T, XM_005265371.4:c.4809C>T, XM_005265371.3:c.4809C>T, XM_005265371.2:c.4809C>T, XM_005265371.1:c.4809C>T, XM_011533993.3:c.4806C>T, XM_011533993.2:c.4806C>T, XM_011533993.1:c.4806C>T, XM_011533994.3:c.4515C>T, XM_011533994.2:c.4515C>T, XM_011533994.1:c.4515C>T

Select item 148449854113.

rs1484498541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:38714031 (GRCh38)
3:38755522 (GRCh37)
Canonical SPDI:: NC_000003.12:38714030:G:A
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38714031G>A, NC_000003.11:g.38755522G>A, NG_031891.3:g.107186C>T, NG_031891.2:g.84980C>T, NM_006514.4:c.3731C>T, NM_006514.3:c.3731C>T, NM_006514.2:c.3731C>T, NM_001293306.2:c.3728C>T, NM_001293306.1:c.3728C>T, NM_001293307.2:c.3437C>T, NM_001293307.1:c.3437C>T, XM_005265371.4:c.3740C>T, XM_005265371.3:c.3740C>T, XM_005265371.2:c.3740C>T, XM_005265371.1:c.3740C>T, XM_011533993.3:c.3737C>T, XM_011533993.2:c.3737C>T, XM_011533993.1:c.3737C>T, XM_011533994.3:c.3446C>T, XM_011533994.2:c.3446C>T, XM_011533994.1:c.3446C>T, NP_006505.4:p.Ala1244Val, NP_001280235.2:p.Ala1243Val, NP_001280236.2:p.Ala1146Val, XP_005265428.1:p.Ala1247Val, XP_011532295.1:p.Ala1246Val, XP_011532296.1:p.Ala1149Val

Select item 148440150414.

rs1484401504 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:38709534 (GRCh38)
3:38751025 (GRCh37)
Canonical SPDI:: NC_000003.12:38709533:T:
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38709534del, NC_000003.11:g.38751025del, NG_031891.3:g.111683del, NG_031891.2:g.89477del, NM_006514.4:c.4225del, NM_006514.3:c.4225del, NM_006514.2:c.4225del, NM_001293306.2:c.4222del, NM_001293306.1:c.4222del, NM_001293307.2:c.3931del, NM_001293307.1:c.3931del, XM_005265371.4:c.4234del, XM_005265371.3:c.4234del, XM_005265371.2:c.4234del, XM_005265371.1:c.4234del, XM_011533993.3:c.4231del, XM_011533993.2:c.4231del, XM_011533993.1:c.4231del, XM_011533994.3:c.3940del, XM_011533994.2:c.3940del, XM_011533994.1:c.3940del, NP_006505.4:p.Thr1409fs, NP_001280235.2:p.Thr1408fs, NP_001280236.2:p.Thr1311fs, XP_005265428.1:p.Thr1412fs, XP_011532295.1:p.Thr1411fs, XP_011532296.1:p.Thr1314fs

Select item 148333126515.

rs1483331265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:38698355 (GRCh38)
3:38739846 (GRCh37)
Canonical SPDI:: NC_000003.12:38698354:G:T
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.38698355G>T, NC_000003.11:g.38739846G>T, NG_031891.3:g.122862C>A, NG_031891.2:g.100656C>A, NM_006514.4:c.4865C>A, NM_006514.3:c.4865C>A, NM_006514.2:c.4865C>A, NM_001293306.2:c.4862C>A, NM_001293306.1:c.4862C>A, NM_001293307.2:c.4571C>A, NM_001293307.1:c.4571C>A, XM_005265371.4:c.4874C>A, XM_005265371.3:c.4874C>A, XM_005265371.2:c.4874C>A, XM_005265371.1:c.4874C>A, XM_011533993.3:c.4871C>A, XM_011533993.2:c.4871C>A, XM_011533993.1:c.4871C>A, XM_011533994.3:c.4580C>A, XM_011533994.2:c.4580C>A, XM_011533994.1:c.4580C>A, NP_006505.4:p.Ser1622Tyr, NP_001280235.2:p.Ser1621Tyr, NP_001280236.2:p.Ser1524Tyr, XP_005265428.1:p.Ser1625Tyr, XP_011532295.1:p.Ser1624Tyr, XP_011532296.1:p.Ser1527Tyr

Select item 148326731016.

rs1483267310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38728631 (GRCh38)
3:38770122 (GRCh37)
Canonical SPDI:: NC_000003.12:38728630:T:C
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38728631T>C, NC_000003.11:g.38770122T>C, NG_031891.3:g.92586A>G, NG_031891.2:g.70380A>G, NM_006514.4:c.2551A>G, NM_006514.3:c.2551A>G, NM_006514.2:c.2551A>G, NM_001293306.2:c.2551A>G, NM_001293306.1:c.2551A>G, NM_001293307.2:c.2257A>G, NM_001293307.1:c.2257A>G, XM_005265371.4:c.2560A>G, XM_005265371.3:c.2560A>G, XM_005265371.2:c.2560A>G, XM_005265371.1:c.2560A>G, XM_011533993.3:c.2560A>G, XM_011533993.2:c.2560A>G, XM_011533993.1:c.2560A>G, XM_011533994.3:c.2266A>G, XM_011533994.2:c.2266A>G, XM_011533994.1:c.2266A>G, NP_006505.4:p.Ile851Val, NP_001280235.2:p.Ile851Val, NP_001280236.2:p.Ile753Val, XP_005265428.1:p.Ile854Val, XP_011532295.1:p.Ile854Val, XP_011532296.1:p.Ile756Val

Select item 148311630217.

rs1483116302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:38726943 (GRCh38)
3:38768434 (GRCh37)
Canonical SPDI:: NC_000003.12:38726942:A:T
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38726943A>T, NC_000003.11:g.38768434A>T, NG_031891.3:g.94274T>A, NG_031891.2:g.72068T>A, NM_006514.4:c.2750T>A, NM_006514.3:c.2750T>A, NM_006514.2:c.2750T>A, NM_001293307.2:c.2456T>A, NM_001293307.1:c.2456T>A, NM_001293306.2:c.2750T>A, NM_001293306.1:c.2750T>A, NG_053903.1:g.4908A>T, XM_005265371.4:c.2759T>A, XM_005265371.3:c.2759T>A, XM_005265371.2:c.2759T>A, XM_005265371.1:c.2759T>A, XM_011533993.3:c.2759T>A, XM_011533993.2:c.2759T>A, XM_011533993.1:c.2759T>A, XM_011533994.3:c.2465T>A, XM_011533994.2:c.2465T>A, XM_011533994.1:c.2465T>A, NP_006505.4:p.Ile917Asn, NP_001280236.2:p.Ile819Asn, NP_001280235.2:p.Ile917Asn, XP_005265428.1:p.Ile920Asn, XP_011532295.1:p.Ile920Asn, XP_011532296.1:p.Ile822Asn

Select item 148301514818.

rs1483015148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:38722266 (GRCh38)
3:38763757 (GRCh37)
Canonical SPDI:: NC_000003.12:38722265:C:A
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38722266C>A, NC_000003.11:g.38763757C>A, NG_031891.3:g.98951G>T, NG_031891.2:g.76745G>T, NM_006514.4:c.3499G>T, NM_006514.3:c.3499G>T, NM_006514.2:c.3499G>T, NM_001293307.2:c.3205G>T, NM_001293307.1:c.3205G>T, NM_001293306.2:c.3496G>T, NM_001293306.1:c.3496G>T, NG_053903.1:g.231C>A, XM_005265371.4:c.3508G>T, XM_005265371.3:c.3508G>T, XM_005265371.2:c.3508G>T, XM_005265371.1:c.3508G>T, XM_011533993.3:c.3505G>T, XM_011533993.2:c.3505G>T, XM_011533993.1:c.3505G>T, XM_011533994.3:c.3214G>T, XM_011533994.2:c.3214G>T, XM_011533994.1:c.3214G>T, NP_006505.4:p.Gly1167Ter, NP_001280236.2:p.Gly1069Ter, NP_001280235.2:p.Gly1166Ter, XP_005265428.1:p.Gly1170Ter, XP_011532295.1:p.Gly1169Ter, XP_011532296.1:p.Gly1072Ter

Select item 148261437219.

rs1482614372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:38718661 (GRCh38)
3:38760152 (GRCh37)
Canonical SPDI:: NC_000003.12:38718660:T:C,NC_000003.12:38718660:T:G
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38718661T>C, NC_000003.12:g.38718661T>G, NC_000003.11:g.38760152T>C, NC_000003.11:g.38760152T>G, NG_031891.3:g.102556A>G, NG_031891.3:g.102556A>C, NG_031891.2:g.80350A>G, NG_031891.2:g.80350A>C, NM_006514.4:c.3673A>G, NM_006514.4:c.3673A>C, NM_006514.3:c.3673A>G, NM_006514.3:c.3673A>C, NM_006514.2:c.3673A>G, NM_006514.2:c.3673A>C, NM_001293306.2:c.3670A>G, NM_001293306.2:c.3670A>C, NM_001293306.1:c.3670A>G, NM_001293306.1:c.3670A>C, NM_001293307.2:c.3379A>G, NM_001293307.2:c.3379A>C, NM_001293307.1:c.3379A>G, NM_001293307.1:c.3379A>C, XM_005265371.4:c.3682A>G, XM_005265371.4:c.3682A>C, XM_005265371.3:c.3682A>G, XM_005265371.3:c.3682A>C, XM_005265371.2:c.3682A>G, XM_005265371.2:c.3682A>C, XM_005265371.1:c.3682A>G, XM_005265371.1:c.3682A>C, XM_011533993.3:c.3679A>G, XM_011533993.3:c.3679A>C, XM_011533993.2:c.3679A>G, XM_011533993.2:c.3679A>C, XM_011533993.1:c.3679A>G, XM_011533993.1:c.3679A>C, XM_011533994.3:c.3388A>G, XM_011533994.3:c.3388A>C, XM_011533994.2:c.3388A>G, XM_011533994.2:c.3388A>C, XM_011533994.1:c.3388A>G, XM_011533994.1:c.3388A>C, NP_006505.4:p.Ile1225Val, NP_006505.4:p.Ile1225Leu, NP_001280235.2:p.Ile1224Val, NP_001280235.2:p.Ile1224Leu, NP_001280236.2:p.Ile1127Val, NP_001280236.2:p.Ile1127Leu, XP_005265428.1:p.Ile1228Val, XP_005265428.1:p.Ile1228Leu, XP_011532295.1:p.Ile1227Val, XP_011532295.1:p.Ile1227Leu, XP_011532296.1:p.Ile1130Val, XP_011532296.1:p.Ile1130Leu

Select item 148245745720.

rs1482457457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38701862 (GRCh38)
3:38743353 (GRCh37)
Canonical SPDI:: NC_000003.12:38701861:A:G
Gene:: SCN10A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38701862A>G, NC_000003.11:g.38743353A>G, NG_031891.3:g.119355T>C, NG_031891.2:g.97149T>C, NM_006514.4:c.4634T>C, NM_006514.3:c.4634T>C, NM_006514.2:c.4634T>C, NM_001293306.2:c.4631T>C, NM_001293306.1:c.4631T>C, NM_001293307.2:c.4340T>C, NM_001293307.1:c.4340T>C, XM_005265371.4:c.4643T>C, XM_005265371.3:c.4643T>C, XM_005265371.2:c.4643T>C, XM_005265371.1:c.4643T>C, XM_011533993.3:c.4640T>C, XM_011533993.2:c.4640T>C, XM_011533993.1:c.4640T>C, XM_011533994.3:c.4349T>C, XM_011533994.2:c.4349T>C, XM_011533994.1:c.4349T>C, NP_006505.4:p.Ile1545Thr, NP_001280235.2:p.Ile1544Thr, NP_001280236.2:p.Ile1447Thr, XP_005265428.1:p.Ile1548Thr, XP_011532295.1:p.Ile1547Thr, XP_011532296.1:p.Ile1450Thr

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