SNP Links for Protein (Select 1034572029) - SNP

Links from Protein

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Select item 14864274541.

rs1486427454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6240337 (GRCh38)
11:6261567 (GRCh37)
Canonical SPDI:: NC_000011.10:6240336:T:C
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.6240337T>C, NC_000011.9:g.6261567T>C, NM_001037329.4:c.543T>C, NM_001037329.3:c.543T>C, XM_017017218.3:c.423T>C, XM_017017218.2:c.423T>C, XM_017017218.1:c.423T>C, XM_017017217.2:c.543T>C, XM_017017217.1:c.543T>C, XM_017017219.2:c.423T>C, XM_017017219.1:c.423T>C, XM_024448353.2:c.423T>C, XM_024448353.1:c.423T>C

Select item 14862247722.

rs1486224772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:6240192 (GRCh38)
11:6261422 (GRCh37)
Canonical SPDI:: NC_000011.10:6240191:G:T
Gene:: CNGA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6240192G>T, NC_000011.9:g.6261422G>T, NM_001037329.4:c.398G>T, NM_001037329.3:c.398G>T, XM_017017218.3:c.278G>T, XM_017017218.2:c.278G>T, XM_017017218.1:c.278G>T, XM_017017217.2:c.398G>T, XM_017017217.1:c.398G>T, XM_017017219.2:c.278G>T, XM_017017219.1:c.278G>T, XM_024448353.2:c.278G>T, XM_024448353.1:c.278G>T, NP_001032406.1:p.Gly133Val, XP_016872707.1:p.Gly93Val, XP_016872706.1:p.Gly133Val, XP_016872708.1:p.Gly93Val, XP_024304121.1:p.Gly93Val

Select item 14845971043.

rs1484597104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:6240493 (GRCh38)
11:6261723 (GRCh37)
Canonical SPDI:: NC_000011.10:6240492:C:G,NC_000011.10:6240492:C:T
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
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)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.6240493C>G, NC_000011.10:g.6240493C>T, NC_000011.9:g.6261723C>G, NC_000011.9:g.6261723C>T, NM_001037329.4:c.699C>G, NM_001037329.4:c.699C>T, NM_001037329.3:c.699C>G, NM_001037329.3:c.699C>T, XM_017017218.3:c.579C>G, XM_017017218.3:c.579C>T, XM_017017218.2:c.579C>G, XM_017017218.2:c.579C>T, XM_017017218.1:c.579C>G, XM_017017218.1:c.579C>T, XM_017017217.2:c.699C>G, XM_017017217.2:c.699C>T, XM_017017217.1:c.699C>G, XM_017017217.1:c.699C>T, XM_017017219.2:c.579C>G, XM_017017219.2:c.579C>T, XM_017017219.1:c.579C>G, XM_017017219.1:c.579C>T, XM_024448353.2:c.579C>G, XM_024448353.2:c.579C>T, XM_024448353.1:c.579C>G, XM_024448353.1:c.579C>T

Select item 14841376844.

rs1484137684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:6239724 (GRCh38)
11:6260954 (GRCh37)
Canonical SPDI:: NC_000011.10:6239723:T:C,NC_000011.10:6239723:T:G
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6239724T>C, NC_000011.10:g.6239724T>G, NC_000011.9:g.6260954T>C, NC_000011.9:g.6260954T>G, NM_001037329.4:c.205T>C, NM_001037329.4:c.205T>G, NM_001037329.3:c.205T>C, NM_001037329.3:c.205T>G, XM_017017218.3:c.85T>C, XM_017017218.3:c.85T>G, XM_017017218.2:c.85T>C, XM_017017218.2:c.85T>G, XM_017017218.1:c.85T>C, XM_017017218.1:c.85T>G, XM_017017217.2:c.205T>C, XM_017017217.2:c.205T>G, XM_017017217.1:c.205T>C, XM_017017217.1:c.205T>G, XM_017017219.2:c.85T>C, XM_017017219.2:c.85T>G, XM_017017219.1:c.85T>C, XM_017017219.1:c.85T>G, XM_024448353.2:c.85T>C, XM_024448353.2:c.85T>G, XM_024448353.1:c.85T>C, XM_024448353.1:c.85T>G, NP_001032406.1:p.Trp69Arg, NP_001032406.1:p.Trp69Gly, XP_016872707.1:p.Trp29Arg, XP_016872707.1:p.Trp29Gly, XP_016872706.1:p.Trp69Arg, XP_016872706.1:p.Trp69Gly, XP_016872708.1:p.Trp29Arg, XP_016872708.1:p.Trp29Gly, XP_024304121.1:p.Trp29Arg, XP_024304121.1:p.Trp29Gly

Select item 14826356355.

rs1482635635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6241698 (GRCh38)
11:6262928 (GRCh37)
Canonical SPDI:: NC_000011.10:6241697:G:A
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6241698G>A, NC_000011.9:g.6262928G>A, NM_001037329.4:c.1185G>A, NM_001037329.3:c.1185G>A, XM_017017218.3:c.1065G>A, XM_017017218.2:c.1065G>A, XM_017017218.1:c.1065G>A, XM_017017217.2:c.1185G>A, XM_017017217.1:c.1185G>A, XM_017017219.2:c.1065G>A, XM_017017219.1:c.1065G>A, XM_024448353.2:c.1065G>A, XM_024448353.1:c.1065G>A

Select item 14823111336.

rs1482311133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6243980 (GRCh38)
11:6265210 (GRCh37)
Canonical SPDI:: NC_000011.10:6243979:C:T
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6243980C>T, NC_000011.9:g.6265210C>T, NM_001037329.4:c.1299C>T, NM_001037329.3:c.1299C>T, XM_017017218.3:c.1185C>T, XM_017017218.2:c.1185C>T, XM_017017218.1:c.1185C>T, XM_017017217.2:c.1305C>T, XM_017017217.1:c.1305C>T, XM_017017219.2:c.1185C>T, XM_017017219.1:c.1185C>T, XM_024448353.2:c.1179C>T, XM_024448353.1:c.1179C>T

Select item 14820886457.

rs1482088645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6241747 (GRCh38)
11:6262977 (GRCh37)
Canonical SPDI:: NC_000011.10:6241746:T:C
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6241747T>C, NC_000011.9:g.6262977T>C, NM_001037329.4:c.1234T>C, NM_001037329.3:c.1234T>C, XM_017017218.3:c.1114T>C, XM_017017218.2:c.1114T>C, XM_017017218.1:c.1114T>C, XM_017017217.2:c.1234T>C, XM_017017217.1:c.1234T>C, XM_017017219.2:c.1114T>C, XM_017017219.1:c.1114T>C, XM_024448353.2:c.1114T>C, XM_024448353.1:c.1114T>C, NP_001032406.1:p.Tyr412His, XP_016872707.1:p.Tyr372His, XP_016872706.1:p.Tyr412His, XP_016872708.1:p.Tyr372His, XP_024304121.1:p.Tyr372His

Select item 14813196538.

rs1481319653 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTCGCAC>- [Show Flanks]
Chromosome:: 11:6240122 (GRCh38)
11:6261352 (GRCh37)
Canonical SPDI:: NC_000011.10:6240119:ACGTTCGCAC:AC
Gene:: CNGA4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6240122_6240129del, NC_000011.9:g.6261352_6261359del, NM_001037329.4:c.328_335del, NM_001037329.3:c.328_335del, XM_017017218.3:c.208_215del, XM_017017218.2:c.208_215del, XM_017017218.1:c.208_215del, XM_017017217.2:c.328_335del, XM_017017217.1:c.328_335del, XM_017017219.2:c.208_215del, XM_017017219.1:c.208_215del, XM_024448353.2:c.208_215del, XM_024448353.1:c.208_215del, NP_001032406.1:p.Val110fs, XP_016872707.1:p.Val70fs, XP_016872706.1:p.Val110fs, XP_016872708.1:p.Val70fs, XP_024304121.1:p.Val70fs

Select item 14809163269.

rs1480916326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:6240134 (GRCh38)
11:6261364 (GRCh37)
Canonical SPDI:: NC_000011.10:6240133:A:G,NC_000011.10:6240133:A:T
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6240134A>G, NC_000011.10:g.6240134A>T, NC_000011.9:g.6261364A>G, NC_000011.9:g.6261364A>T, NM_001037329.4:c.340A>G, NM_001037329.4:c.340A>T, NM_001037329.3:c.340A>G, NM_001037329.3:c.340A>T, XM_017017218.3:c.220A>G, XM_017017218.3:c.220A>T, XM_017017218.2:c.220A>G, XM_017017218.2:c.220A>T, XM_017017218.1:c.220A>G, XM_017017218.1:c.220A>T, XM_017017217.2:c.340A>G, XM_017017217.2:c.340A>T, XM_017017217.1:c.340A>G, XM_017017217.1:c.340A>T, XM_017017219.2:c.220A>G, XM_017017219.2:c.220A>T, XM_017017219.1:c.220A>G, XM_017017219.1:c.220A>T, XM_024448353.2:c.220A>G, XM_024448353.2:c.220A>T, XM_024448353.1:c.220A>G, XM_024448353.1:c.220A>T, NP_001032406.1:p.Ser114Gly, NP_001032406.1:p.Ser114Cys, XP_016872707.1:p.Ser74Gly, XP_016872707.1:p.Ser74Cys, XP_016872706.1:p.Ser114Gly, XP_016872706.1:p.Ser114Cys, XP_016872708.1:p.Ser74Gly, XP_016872708.1:p.Ser74Cys, XP_024304121.1:p.Ser74Gly, XP_024304121.1:p.Ser74Cys

Select item 148012457710.

rs1480124577 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 11:6244350 (GRCh38)
11:6265580 (GRCh37)
Canonical SPDI:: NC_000011.10:6244348:GGG:G
Gene:: CNGA4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6244350_6244351del, NC_000011.9:g.6265580_6265581del, NM_001037329.4:c.1669_1670del, NM_001037329.3:c.1669_1670del, XM_017017218.3:c.1555_1556del, XM_017017218.2:c.1555_1556del, XM_017017218.1:c.1555_1556del, XM_017017217.2:c.1675_1676del, XM_017017217.1:c.1675_1676del, XM_017017219.2:c.1555_1556del, XM_017017219.1:c.1555_1556del, XM_024448353.2:c.1549_1550del, XM_024448353.1:c.1549_1550del, NP_001032406.1:p.Gly557fs, XP_016872707.1:p.Gly519fs, XP_016872706.1:p.Gly559fs, XP_016872708.1:p.Gly519fs, XP_024304121.1:p.Gly517fs

Select item 147826504811.

rs1478265048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6241561 (GRCh38)
11:6262791 (GRCh37)
Canonical SPDI:: NC_000011.10:6241560:C:G
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6241561C>G, NC_000011.9:g.6262791C>G, NM_001037329.4:c.1048C>G, NM_001037329.3:c.1048C>G, XM_017017218.3:c.928C>G, XM_017017218.2:c.928C>G, XM_017017218.1:c.928C>G, XM_017017217.2:c.1048C>G, XM_017017217.1:c.1048C>G, XM_017017219.2:c.928C>G, XM_017017219.1:c.928C>G, XM_024448353.2:c.928C>G, XM_024448353.1:c.928C>G, NP_001032406.1:p.Gln350Glu, XP_016872707.1:p.Gln310Glu, XP_016872706.1:p.Gln350Glu, XP_016872708.1:p.Gln310Glu, XP_024304121.1:p.Gln310Glu

Select item 147730476212.

rs1477304762 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:6241761 (GRCh38)
11:6262991 (GRCh37)
Canonical SPDI:: NC_000011.10:6241760:C:
Gene:: CNGA4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.6241761del, NC_000011.9:g.6262991del, NM_001037329.4:c.1248del, NM_001037329.3:c.1248del, XM_017017218.3:c.1128del, XM_017017218.2:c.1128del, XM_017017218.1:c.1128del, XM_017017217.2:c.1248del, XM_017017217.1:c.1248del, XM_017017219.2:c.1128del, XM_017017219.1:c.1128del, XM_024448353.2:c.1128del, XM_024448353.1:c.1128del, NP_001032406.1:p.Ser417fs, XP_016872707.1:p.Ser377fs, XP_016872706.1:p.Ser417fs, XP_016872708.1:p.Ser377fs, XP_024304121.1:p.Ser377fs

Select item 147058859913.

rs1470588599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6241431 (GRCh38)
11:6262661 (GRCh37)
Canonical SPDI:: NC_000011.10:6241430:G:A
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.6241431G>A, NC_000011.9:g.6262661G>A, NM_001037329.4:c.918G>A, NM_001037329.3:c.918G>A, XM_017017218.3:c.798G>A, XM_017017218.2:c.798G>A, XM_017017218.1:c.798G>A, XM_017017217.2:c.918G>A, XM_017017217.1:c.918G>A, XM_017017219.2:c.798G>A, XM_017017219.1:c.798G>A, XM_024448353.2:c.798G>A, XM_024448353.1:c.798G>A, NP_001032406.1:p.Trp306Ter, XP_016872707.1:p.Trp266Ter, XP_016872706.1:p.Trp306Ter, XP_016872708.1:p.Trp266Ter, XP_024304121.1:p.Trp266Ter

Select item 146314050514.

rs1463140505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6240281 (GRCh38)
11:6261511 (GRCh37)
Canonical SPDI:: NC_000011.10:6240280:T:C
Gene:: CNGA4 (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_000011.10:g.6240281T>C, NC_000011.9:g.6261511T>C, NM_001037329.4:c.487T>C, NM_001037329.3:c.487T>C, XM_017017218.3:c.367T>C, XM_017017218.2:c.367T>C, XM_017017218.1:c.367T>C, XM_017017217.2:c.487T>C, XM_017017217.1:c.487T>C, XM_017017219.2:c.367T>C, XM_017017219.1:c.367T>C, XM_024448353.2:c.367T>C, XM_024448353.1:c.367T>C, NP_001032406.1:p.Tyr163His, XP_016872707.1:p.Tyr123His, XP_016872706.1:p.Tyr163His, XP_016872708.1:p.Tyr123His, XP_024304121.1:p.Tyr123His

Select item 146295436415.

rs1462954364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6244110 (GRCh38)
11:6265340 (GRCh37)
Canonical SPDI:: NC_000011.10:6244109:A:C
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6244110A>C, NC_000011.9:g.6265340A>C, NM_001037329.4:c.1429A>C, NM_001037329.3:c.1429A>C, XM_017017218.3:c.1315A>C, XM_017017218.2:c.1315A>C, XM_017017218.1:c.1315A>C, XM_017017217.2:c.1435A>C, XM_017017217.1:c.1435A>C, XM_017017219.2:c.1315A>C, XM_017017219.1:c.1315A>C, XM_024448353.2:c.1309A>C, XM_024448353.1:c.1309A>C, NP_001032406.1:p.Lys477Gln, XP_016872707.1:p.Lys439Gln, XP_016872706.1:p.Lys479Gln, XP_016872708.1:p.Lys439Gln, XP_024304121.1:p.Lys437Gln

Select item 145986862816.

rs1459868628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:6241718 (GRCh38)
11:6262948 (GRCh37)
Canonical SPDI:: NC_000011.10:6241717:C:A
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6241718C>A, NC_000011.9:g.6262948C>A, NM_001037329.4:c.1205C>A, NM_001037329.3:c.1205C>A, XM_017017218.3:c.1085C>A, XM_017017218.2:c.1085C>A, XM_017017218.1:c.1085C>A, XM_017017217.2:c.1205C>A, XM_017017217.1:c.1205C>A, XM_017017219.2:c.1085C>A, XM_017017219.1:c.1085C>A, XM_024448353.2:c.1085C>A, XM_024448353.1:c.1085C>A, NP_001032406.1:p.Thr402Lys, XP_016872707.1:p.Thr362Lys, XP_016872706.1:p.Thr402Lys, XP_016872708.1:p.Thr362Lys, XP_024304121.1:p.Thr362Lys

Select item 145904665617.

rs1459046656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6240423 (GRCh38)
11:6261653 (GRCh37)
Canonical SPDI:: NC_000011.10:6240422:G:A
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6240423G>A, NC_000011.9:g.6261653G>A, NM_001037329.4:c.629G>A, NM_001037329.3:c.629G>A, XM_017017218.3:c.509G>A, XM_017017218.2:c.509G>A, XM_017017218.1:c.509G>A, XM_017017217.2:c.629G>A, XM_017017217.1:c.629G>A, XM_017017219.2:c.509G>A, XM_017017219.1:c.509G>A, XM_024448353.2:c.509G>A, XM_024448353.1:c.509G>A, NP_001032406.1:p.Gly210Asp, XP_016872707.1:p.Gly170Asp, XP_016872706.1:p.Gly210Asp, XP_016872708.1:p.Gly170Asp, XP_024304121.1:p.Gly170Asp

Select item 145383207218.

rs1453832072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6241681 (GRCh38)
11:6262911 (GRCh37)
Canonical SPDI:: NC_000011.10:6241680:G:C
Gene:: CNGA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.6241681G>C, NC_000011.9:g.6262911G>C, NM_001037329.4:c.1168G>C, NM_001037329.3:c.1168G>C, XM_017017218.3:c.1048G>C, XM_017017218.2:c.1048G>C, XM_017017218.1:c.1048G>C, XM_017017217.2:c.1168G>C, XM_017017217.1:c.1168G>C, XM_017017219.2:c.1048G>C, XM_017017219.1:c.1048G>C, XM_024448353.2:c.1048G>C, XM_024448353.1:c.1048G>C, NP_001032406.1:p.Glu390Gln, XP_016872707.1:p.Glu350Gln, XP_016872706.1:p.Glu390Gln, XP_016872708.1:p.Glu350Gln, XP_024304121.1:p.Glu350Gln

Select item 145271500019.

rs1452715000 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACGCACAGAGAC [Show Flanks]
Chromosome:: 11:6240258 (GRCh38)
11:6261489 (GRCh37)
Canonical SPDI:: NC_000011.10:6240258::ACGCACAGAGAC
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency
MAF:: ACGCACAGAGAC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6240258_6240259insACGCACAGAGAC, NC_000011.9:g.6261488_6261489insACGCACAGAGAC, NM_001037329.4:c.464_465insACGCACAGAGAC, NM_001037329.3:c.464_465insACGCACAGAGAC, XM_017017218.3:c.344_345insACGCACAGAGAC, XM_017017218.2:c.344_345insACGCACAGAGAC, XM_017017218.1:c.344_345insACGCACAGAGAC, XM_017017217.2:c.464_465insACGCACAGAGAC, XM_017017217.1:c.464_465insACGCACAGAGAC, XM_017017219.2:c.344_345insACGCACAGAGAC, XM_017017219.1:c.344_345insACGCACAGAGAC, XM_024448353.2:c.344_345insACGCACAGAGAC, XM_024448353.1:c.344_345insACGCACAGAGAC, NP_001032406.1:p.Asp155delinsGluArgThrGluThr, XP_016872707.1:p.Asp115delinsGluArgThrGluThr, XP_016872706.1:p.Asp155delinsGluArgThrGluThr, XP_016872708.1:p.Asp115delinsGluArgThrGluThr, XP_024304121.1:p.Asp115delinsGluArgThrGluThr

Select item 145193601320.

rs1451936013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6240614 (GRCh38)
11:6261844 (GRCh37)
Canonical SPDI:: NC_000011.10:6240613:A:G
Gene:: CNGA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6240614A>G, NC_000011.9:g.6261844A>G, NM_001037329.4:c.820A>G, NM_001037329.3:c.820A>G, XM_017017218.3:c.700A>G, XM_017017218.2:c.700A>G, XM_017017218.1:c.700A>G, XM_017017217.2:c.820A>G, XM_017017217.1:c.820A>G, XM_017017219.2:c.700A>G, XM_017017219.1:c.700A>G, XM_024448353.2:c.700A>G, XM_024448353.1:c.700A>G, NP_001032406.1:p.Thr274Ala, XP_016872707.1:p.Thr234Ala, XP_016872706.1:p.Thr274Ala, XP_016872708.1:p.Thr234Ala, XP_024304121.1:p.Thr234Ala

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