SNP Links for Protein (Select 31657099) - SNP

Links from Protein

Items: 1 to 20 of 117

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Select item 14886360411.

rs1488636041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32452418 (GRCh38)
3:32493910 (GRCh37)
Canonical SPDI:: NC_000003.12:32452417:C:T
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.32452418C>T, NC_000003.11:g.32493910C>T, NM_138410.4:c.459C>T, NM_138410.3:c.459C>T, NM_138410.2:c.459C>T, NM_181472.3:c.360C>T, NM_181472.2:c.360C>T, NM_181472.1:c.360C>T, XM_011533319.3:c.*329C>T

Select item 14857315952.

rs1485731595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:32441953 (GRCh38)
3:32483445 (GRCh37)
Canonical SPDI:: NC_000003.12:32441952:T:G
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.32441953T>G, NC_000003.11:g.32483445T>G, NM_138410.4:c.273T>G, NM_138410.3:c.273T>G, NM_138410.2:c.273T>G, NM_181472.3:c.273T>G, NM_181472.2:c.273T>G, NM_181472.1:c.273T>G, XM_011533319.3:c.273T>G, NP_612419.1:p.Phe91Leu, NP_852137.1:p.Phe91Leu, XP_011531621.1:p.Phe91Leu

Select item 14840549113.

rs1484054911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:32441841 (GRCh38)
3:32483333 (GRCh37)
Canonical SPDI:: NC_000003.12:32441840:T:G
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.006/11 (Korea1K)
HGVS:: NC_000003.12:g.32441841T>G, NC_000003.11:g.32483333T>G, NM_138410.4:c.161T>G, NM_138410.3:c.161T>G, NM_138410.2:c.161T>G, NM_181472.3:c.161T>G, NM_181472.2:c.161T>G, NM_181472.1:c.161T>G, XM_011533319.3:c.161T>G, NP_612419.1:p.Val54Gly, NP_852137.1:p.Val54Gly, XP_011531621.1:p.Val54Gly

Select item 14688938654.

rs1468893865 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTAAC>- [Show Flanks]
Chromosome:: 3:32452454 (GRCh38)
3:32493946 (GRCh37)
Canonical SPDI:: NC_000003.12:32452452:CGTGTGTAAC:C
Gene:: CMTM7 (Varview)
Functional Consequence:: inframe_deletion,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32452454_32452462del, NC_000003.11:g.32493946_32493954del, NM_138410.4:c.495_503del, NM_138410.3:c.495_503del, NM_138410.2:c.495_503del, NM_181472.3:c.396_404del, NM_181472.2:c.396_404del, NM_181472.1:c.396_404del, XM_011533319.3:c.*365_*373del, NP_612419.1:p.Cys166_Thr168del, NP_852137.1:p.Cys133_Thr135del

Select item 14559545885.

rs1455954588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32441989 (GRCh38)
3:32483481 (GRCh37)
Canonical SPDI:: NC_000003.12:32441988:C:T
Gene:: CMTM7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32441989C>T, NC_000003.11:g.32483481C>T, NM_138410.4:c.309C>T, NM_138410.3:c.309C>T, NM_138410.2:c.309C>T, NM_181472.3:c.309C>T, NM_181472.2:c.309C>T, NM_181472.1:c.309C>T, XM_011533319.3:c.309C>T

Select item 14558854126.

rs1455885412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:32391924 (GRCh38)
3:32433416 (GRCh37)
Canonical SPDI:: NC_000003.12:32391923:G:C
Gene:: CMTM7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000003.12:g.32391924G>C, NC_000003.11:g.32433416G>C, NM_138410.4:c.18G>C, NM_138410.3:c.18G>C, NM_138410.2:c.18G>C, NM_181472.3:c.18G>C, NM_181472.2:c.18G>C, NM_181472.1:c.18G>C, XM_011533319.3:c.18G>C

Select item 14505227117.

rs1450522711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:32441867 (GRCh38)
3:32483359 (GRCh37)
Canonical SPDI:: NC_000003.12:32441866:G:A
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.32441867G>A, NC_000003.11:g.32483359G>A, NM_138410.4:c.187G>A, NM_138410.3:c.187G>A, NM_138410.2:c.187G>A, NM_181472.3:c.187G>A, NM_181472.2:c.187G>A, NM_181472.1:c.187G>A, XM_011533319.3:c.187G>A, NP_612419.1:p.Val63Met, NP_852137.1:p.Val63Met, XP_011531621.1:p.Val63Met

Select item 14503667438.

rs1450366743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32392058 (GRCh38)
3:32433550 (GRCh37)
Canonical SPDI:: NC_000003.12:32392057:C:T
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000071/1 (TOMMO)
T=0.000688/2 (KOREAN)
HGVS:: NC_000003.12:g.32392058C>T, NC_000003.11:g.32433550C>T, NM_138410.4:c.152C>T, NM_138410.3:c.152C>T, NM_138410.2:c.152C>T, NM_181472.3:c.152C>T, NM_181472.2:c.152C>T, NM_181472.1:c.152C>T, XM_011533319.3:c.152C>T, NP_612419.1:p.Ala51Val, NP_852137.1:p.Ala51Val, XP_011531621.1:p.Ala51Val

Select item 14486062969.

rs1448606296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:32452458 (GRCh38)
3:32493950 (GRCh37)
Canonical SPDI:: NC_000003.12:32452457:G:A
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32452458G>A, NC_000003.11:g.32493950G>A, NM_138410.4:c.499G>A, NM_138410.3:c.499G>A, NM_138410.2:c.499G>A, NM_181472.3:c.400G>A, NM_181472.2:c.400G>A, NM_181472.1:c.400G>A, XM_011533319.3:c.*369G>A, NP_612419.1:p.Val167Ile, NP_852137.1:p.Val134Ile

Select item 144250557610.

rs1442505576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:32392029 (GRCh38)
3:32433521 (GRCh37)
Canonical SPDI:: NC_000003.12:32392028:C:A
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.32392029C>A, NC_000003.11:g.32433521C>A, NM_138410.4:c.123C>A, NM_138410.3:c.123C>A, NM_138410.2:c.123C>A, NM_181472.3:c.123C>A, NM_181472.2:c.123C>A, NM_181472.1:c.123C>A, XM_011533319.3:c.123C>A

Select item 143689931711.

rs1436899317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32441950 (GRCh38)
3:32483442 (GRCh37)
Canonical SPDI:: NC_000003.12:32441949:C:T
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32441950C>T, NC_000003.11:g.32483442C>T, NM_138410.4:c.270C>T, NM_138410.3:c.270C>T, NM_138410.2:c.270C>T, NM_181472.3:c.270C>T, NM_181472.2:c.270C>T, NM_181472.1:c.270C>T, XM_011533319.3:c.270C>T

Select item 143114900712.

rs1431149007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32392027 (GRCh38)
3:32433519 (GRCh37)
Canonical SPDI:: NC_000003.12:32392026:C:T
Gene:: CMTM7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.32392027C>T, NC_000003.11:g.32433519C>T, NM_138410.4:c.121C>T, NM_138410.3:c.121C>T, NM_138410.2:c.121C>T, NM_181472.3:c.121C>T, NM_181472.2:c.121C>T, NM_181472.1:c.121C>T, XM_011533319.3:c.121C>T, NP_612419.1:p.Pro41Ser, NP_852137.1:p.Pro41Ser, XP_011531621.1:p.Pro41Ser

Select item 143069522513.

rs1430695225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:32442013 (GRCh38)
3:32483505 (GRCh37)
Canonical SPDI:: NC_000003.12:32442012:G:A
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32442013G>A, NC_000003.11:g.32483505G>A, NM_138410.4:c.333G>A, NM_138410.3:c.333G>A, NM_138410.2:c.333G>A, NM_181472.3:c.333G>A, NM_181472.2:c.333G>A, NM_181472.1:c.333G>A, XM_011533319.3:c.333G>A

Select item 142627864814.

rs1426278648 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:32441859 (GRCh38)
3:32483352 (GRCh37)
Canonical SPDI:: NC_000003.12:32441859:C:CC
Gene:: CMTM7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000003.12:g.32441860dup, NC_000003.11:g.32483352dup, NM_138410.4:c.180dup, NM_138410.3:c.180dup, NM_138410.2:c.180dup, NM_181472.3:c.180dup, NM_181472.2:c.180dup, NM_181472.1:c.180dup, XM_011533319.3:c.180dup, NP_612419.1:p.Ile61fs, NP_852137.1:p.Ile61fs, XP_011531621.1:p.Ile61fs

Select item 141663546515.

rs1416635465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:32454249 (GRCh38)
3:32495741 (GRCh37)
Canonical SPDI:: NC_000003.12:32454248:G:A,NC_000003.12:32454248:G:T
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.32454249G>A, NC_000003.12:g.32454249G>T, NC_000003.11:g.32495741G>A, NC_000003.11:g.32495741G>T, NM_138410.4:c.523G>A, NM_138410.4:c.523G>T, NM_138410.3:c.523G>A, NM_138410.3:c.523G>T, NM_138410.2:c.523G>A, NM_138410.2:c.523G>T, NM_181472.3:c.424G>A, NM_181472.3:c.424G>T, NM_181472.2:c.424G>A, NM_181472.2:c.424G>T, NM_181472.1:c.424G>A, NM_181472.1:c.424G>T, NP_612419.1:p.Val175Ile, NP_612419.1:p.Val175Phe, NP_852137.1:p.Val142Ile, NP_852137.1:p.Val142Phe

Select item 141399931416.

rs1413999314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:32392059 (GRCh38)
3:32433551 (GRCh37)
Canonical SPDI:: NC_000003.12:32392058:G:A,NC_000003.12:32392058:G:T
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.32392059G>A, NC_000003.12:g.32392059G>T, NC_000003.11:g.32433551G>A, NC_000003.11:g.32433551G>T, NM_138410.4:c.153G>A, NM_138410.4:c.153G>T, NM_138410.3:c.153G>A, NM_138410.3:c.153G>T, NM_138410.2:c.153G>A, NM_138410.2:c.153G>T, NM_181472.3:c.153G>A, NM_181472.3:c.153G>T, NM_181472.2:c.153G>A, NM_181472.2:c.153G>T, NM_181472.1:c.153G>A, NM_181472.1:c.153G>T, XM_011533319.3:c.153G>A, XM_011533319.3:c.153G>T

Select item 141065928917.

rs1410659289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32441962 (GRCh38)
3:32483454 (GRCh37)
Canonical SPDI:: NC_000003.12:32441961:C:T
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32441962C>T, NC_000003.11:g.32483454C>T, NM_138410.4:c.282C>T, NM_138410.3:c.282C>T, NM_138410.2:c.282C>T, NM_181472.3:c.282C>T, NM_181472.2:c.282C>T, NM_181472.1:c.282C>T, XM_011533319.3:c.282C>T

Select item 140294909218.

rs1402949092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:32442012 (GRCh38)
3:32483504 (GRCh37)
Canonical SPDI:: NC_000003.12:32442011:C:A,NC_000003.12:32442011:C:T
Gene:: CMTM7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.32442012C>A, NC_000003.12:g.32442012C>T, NC_000003.11:g.32483504C>A, NC_000003.11:g.32483504C>T, NM_138410.4:c.332C>A, NM_138410.4:c.332C>T, NM_138410.3:c.332C>A, NM_138410.3:c.332C>T, NM_138410.2:c.332C>A, NM_138410.2:c.332C>T, NM_181472.3:c.332C>A, NM_181472.3:c.332C>T, NM_181472.2:c.332C>A, NM_181472.2:c.332C>T, NM_181472.1:c.332C>A, NM_181472.1:c.332C>T, XM_011533319.3:c.332C>A, XM_011533319.3:c.332C>T, NP_612419.1:p.Ser111Ter, NP_612419.1:p.Ser111Leu, NP_852137.1:p.Ser111Ter, NP_852137.1:p.Ser111Leu, XP_011531621.1:p.Ser111Ter, XP_011531621.1:p.Ser111Leu

Select item 138999755719.

rs1389997557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:32392013 (GRCh38)
3:32433505 (GRCh37)
Canonical SPDI:: NC_000003.12:32392012:T:C
Gene:: CMTM7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.32392013T>C, NC_000003.11:g.32433505T>C, NM_138410.4:c.107T>C, NM_138410.3:c.107T>C, NM_138410.2:c.107T>C, NM_181472.3:c.107T>C, NM_181472.2:c.107T>C, NM_181472.1:c.107T>C, XM_011533319.3:c.107T>C, NP_612419.1:p.Leu36Pro, NP_852137.1:p.Leu36Pro, XP_011531621.1:p.Leu36Pro

Select item 138789667020.

rs1387896670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:32392030 (GRCh38)
3:32433522 (GRCh37)
Canonical SPDI:: NC_000003.12:32392029:C:A
Gene:: CMTM7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.32392030C>A, NC_000003.11:g.32433522C>A, NM_138410.4:c.124C>A, NM_138410.3:c.124C>A, NM_138410.2:c.124C>A, NM_181472.3:c.124C>A, NM_181472.2:c.124C>A, NM_181472.1:c.124C>A, XM_011533319.3:c.124C>A, NP_612419.1:p.Arg42Ser, NP_852137.1:p.Arg42Ser, XP_011531621.1:p.Arg42Ser

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