Canonical Allele Identifier: CA365559498
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2702265
ClinVar RCV Id: RCV003517992
MyVariant Identifiers: chr6:g.121768648G>C (hg19) chr6:g.121447502G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447502G>C , CM000668.2:g.121447502G>C GRCh38
NC_000006.11:g.121768648G>C , CM000668.1:g.121768648G>C GRCh37
NC_000006.10:g.121810347G>C NCBI36
NG_008308.1:g.16904G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.655G>C MANE Select ENSP00000282561.3:p.Val219Leu
ENST00000647564.1:c.655G>C ENSP00000497565.1:p.Val219Leu
ENST00000649003.1:c.655G>C ENSP00000497283.1:p.Val219Leu
ENST00000650427.1:c.655G>C ENSP00000497367.1:p.Val219Leu
ENST00000282561.3:c.655G>C ENSP00000282561.3:p.Val219Leu
NM_000165.4:c.655G>C NP_000156.1:p.Val219Leu
NM_000165.5:c.655G>C MANE Select NP_000156.1:p.Val219Leu
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