Canonical Allele Identifier: CA365558039
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2148493
ClinVar RCV Id: RCV003081161
gnomAD v4: 6-121447005-G-A
MyVariant Identifiers: chr6:g.121768151G>A (hg19) chr6:g.121447005G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447005G>A , CM000668.2:g.121447005G>A GRCh38
NC_000006.11:g.121768151G>A , CM000668.1:g.121768151G>A GRCh37
NC_000006.10:g.121809850G>A NCBI36
NG_008308.1:g.16407G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.158G>A MANE Select ENSP00000282561.3:p.Arg53His
ENST00000647564.1:c.158G>A ENSP00000497565.1:p.Arg53His
ENST00000649003.1:c.158G>A ENSP00000497283.1:p.Arg53His
ENST00000650427.1:c.158G>A ENSP00000497367.1:p.Arg53His
ENST00000282561.3:c.158G>A ENSP00000282561.3:p.Arg53His
NM_000165.4:c.158G>A NP_000156.1:p.Arg53His
NM_000165.5:c.158G>A MANE Select NP_000156.1:p.Arg53His
Search 100 bp 5'
Search 100 bp 3'