Canonical Allele Identifier: CA365557864
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 986183
dbSNP Id: rs1773898476

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446922G>C , CM000668.2:g.121446922G>C GRCh38
NC_000006.11:g.121768068G>C , CM000668.1:g.121768068G>C GRCh37
NC_000006.10:g.121809767G>C NCBI36
NG_008308.1:g.16324G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.75G>C MANE Select ENSP00000282561.3:p.Trp25Cys
ENST00000647564.1:c.75G>C ENSP00000497565.1:p.Trp25Cys
ENST00000649003.1:c.75G>C ENSP00000497283.1:p.Trp25Cys
ENST00000650427.1:c.75G>C ENSP00000497367.1:p.Trp25Cys
ENST00000282561.3:c.75G>C ENSP00000282561.3:p.Trp25Cys
NM_000165.4:c.75G>C NP_000156.1:p.Trp25Cys
NM_000165.5:c.75G>C MANE Select NP_000156.1:p.Trp25Cys