Canonical Allele Identifier: CA365559062

Gene: GJA1

Linked Data

• ClinVar Variation Id: 2136231
• ClinVar RCV Id: RCV003037070
• MyVariant Identifiers: chr6:g.121768454C>T (hg19) ; chr6:g.121447308C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.461C>T MANE Select	ENSP00000282561.3:p.Thr154Ile
ENST00000647564.1:c.461C>T	ENSP00000497565.1:p.Thr154Ile
ENST00000649003.1:c.461C>T	ENSP00000497283.1:p.Thr154Ile
ENST00000650427.1:c.461C>T	ENSP00000497367.1:p.Thr154Ile
ENST00000282561.3:c.461C>T	ENSP00000282561.3:p.Thr154Ile
NM_000165.4:c.461C>T	NP_000156.1:p.Thr154Ile
NM_000165.5:c.461C>T MANE Select	NP_000156.1:p.Thr154Ile