Canonical Allele Identifier: CA146809973
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs541979414
gnomAD v3: 6-121446524-G-A
gnomAD v4: 6-121446524-G-A
MyVariant Identifiers: chr6:g.121767670G>A (hg19) chr6:g.121446524G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446524G>A , CM000668.2:g.121446524G>A GRCh38
NC_000006.11:g.121767670G>A , CM000668.1:g.121767670G>A GRCh37
NC_000006.10:g.121809369G>A NCBI36
NG_008308.1:g.15926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-308G>A MANE Select ENSP00000282561.3:n.-16-308G>A
ENST00000647564.1:c.-16-308G>A ENSP00000497565.1:n.-16-308G>A
ENST00000649003.1:c.-16-308G>A ENSP00000497283.1:n.-16-308G>A
ENST00000650427.1:c.-16-308G>A ENSP00000497367.1:n.-16-308G>A
ENST00000282561.3:c.-16-308G>A ENSP00000282561.3:n.-16-308G>A
NM_000165.4:c.-16-308G>A NP_000156.1:n.-16-308G>A
NM_000165.5:c.-16-308G>A MANE Select NP_000156.1:n.-16-308G>A
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