Canonical Allele Identifier: CA278750
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 203467
ClinVar RCV Id: RCV000185623
dbSNP Id: rs864309644
MyVariant Identifiers: chr6:g.121768016G>T (hg19) chr6:g.121446870G>T (hg38)
PubMed: PMID:25168385
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446870G>T , CM000668.2:g.121446870G>T GRCh38
NC_000006.11:g.121768016G>T , CM000668.1:g.121768016G>T GRCh37
NC_000006.10:g.121809715G>T NCBI36
NG_008308.1:g.16272G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.23G>T MANE Select ENSP00000282561.3:p.Gly8Val
ENST00000647564.1:c.23G>T ENSP00000497565.1:p.Gly8Val
ENST00000649003.1:c.23G>T ENSP00000497283.1:p.Gly8Val
ENST00000650427.1:c.23G>T ENSP00000497367.1:p.Gly8Val
ENST00000282561.3:c.23G>T ENSP00000282561.3:p.Gly8Val
NM_000165.4:c.23G>T NP_000156.1:p.Gly8Val
NM_000165.5:c.23G>T MANE Select NP_000156.1:p.Gly8Val
Search 100 bp 5'
Search 100 bp 3'