Canonical Allele Identifier: CA365558353
Gene: GJA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.121768231C>G (hg19) chr6:g.121447085C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447085C>G , CM000668.2:g.121447085C>G GRCh38
NC_000006.11:g.121768231C>G , CM000668.1:g.121768231C>G GRCh37
NC_000006.10:g.121809930C>G NCBI36
NG_008308.1:g.16487C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.238C>G MANE Select ENSP00000282561.3:p.Leu80Val
ENST00000647564.1:c.238C>G ENSP00000497565.1:p.Leu80Val
ENST00000649003.1:c.238C>G ENSP00000497283.1:p.Leu80Val
ENST00000650427.1:c.238C>G ENSP00000497367.1:p.Leu80Val
ENST00000282561.3:c.238C>G ENSP00000282561.3:p.Leu80Val
NM_000165.4:c.238C>G NP_000156.1:p.Leu80Val
NM_000165.5:c.238C>G MANE Select NP_000156.1:p.Leu80Val
Search 100 bp 5'
Search 100 bp 3'