Canonical Allele Identifier: CA365559061
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136457
ClinVar RCV Id: RCV003037185
COSMIC: COSM1620839
MyVariant Identifiers: chr6:g.121768454C>A (hg19) chr6:g.121447308C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447308C>A , CM000668.2:g.121447308C>A GRCh38
NC_000006.11:g.121768454C>A , CM000668.1:g.121768454C>A GRCh37
NC_000006.10:g.121810153C>A NCBI36
NG_008308.1:g.16710C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.461C>A MANE Select ENSP00000282561.3:p.Thr154Asn
ENST00000647564.1:c.461C>A ENSP00000497565.1:p.Thr154Asn
ENST00000649003.1:c.461C>A ENSP00000497283.1:p.Thr154Asn
ENST00000650427.1:c.461C>A ENSP00000497367.1:p.Thr154Asn
ENST00000282561.3:c.461C>A ENSP00000282561.3:p.Thr154Asn
NM_000165.4:c.461C>A NP_000156.1:p.Thr154Asn
NM_000165.5:c.461C>A MANE Select NP_000156.1:p.Thr154Asn
Search 100 bp 5'
Search 100 bp 3'