Canonical Allele Identifier: CA146809979
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs564135023
gnomAD v3: 6-121446570-C-A
gnomAD v4: 6-121446570-C-A
MyVariant Identifiers: chr6:g.121767716C>A (hg19) chr6:g.121446570C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446570C>A , CM000668.2:g.121446570C>A GRCh38
NC_000006.11:g.121767716C>A , CM000668.1:g.121767716C>A GRCh37
NC_000006.10:g.121809415C>A NCBI36
NG_008308.1:g.15972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-262C>A MANE Select ENSP00000282561.3:n.-16-262C>A
ENST00000647564.1:c.-16-262C>A ENSP00000497565.1:n.-16-262C>A
ENST00000649003.1:c.-16-262C>A ENSP00000497283.1:n.-16-262C>A
ENST00000650427.1:c.-16-262C>A ENSP00000497367.1:n.-16-262C>A
ENST00000282561.3:c.-16-262C>A ENSP00000282561.3:n.-16-262C>A
NM_000165.4:c.-16-262C>A NP_000156.1:n.-16-262C>A
NM_000165.5:c.-16-262C>A MANE Select NP_000156.1:n.-16-262C>A
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