Canonical Allele Identifier: CA452134170
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2724396
ClinVar RCV Id: RCV003518470
dbSNP Id: rs1415412961
gnomAD v2: 6-121768647-G-A
gnomAD v4: 6-121447501-G-A
MyVariant Identifiers: chr6:g.121768647G>A (hg19) chr6:g.121447501G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447501G>A , CM000668.2:g.121447501G>A GRCh38
NC_000006.11:g.121768647G>A , CM000668.1:g.121768647G>A GRCh37
NC_000006.10:g.121810346G>A NCBI36
NG_008308.1:g.16903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.654G>A MANE Select ENSP00000282561.3:p.Leu218=
ENST00000647564.1:c.654G>A ENSP00000497565.1:p.Leu218=
ENST00000649003.1:c.654G>A ENSP00000497283.1:p.Leu218=
ENST00000650427.1:c.654G>A ENSP00000497367.1:p.Leu218=
ENST00000282561.3:c.654G>A ENSP00000282561.3:p.Leu218=
NM_000165.4:c.654G>A NP_000156.1:p.Leu218=
NM_000165.5:c.654G>A MANE Select NP_000156.1:p.Leu218=
Search 100 bp 5'
Search 100 bp 3'