Canonical Allele Identifier: CA818130934
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1349426057
gnomAD v3: 6-121446525-G-GC
gnomAD v4: 6-121446525-G-GC
MyVariant Identifiers: chr6:g.121767671_121767672insC (hg19) chr6:g.121446525_121446526insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446526dup , CM000668.2:g.121446526dup GRCh38
NC_000006.11:g.121767672dup , CM000668.1:g.121767672dup GRCh37
NC_000006.10:g.121809371dup NCBI36
NG_008308.1:g.15928dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-306dup MANE Select ENSP00000282561.3:n.-16-306dup
ENST00000647564.1:c.-16-306dup ENSP00000497565.1:n.-16-306dup
ENST00000649003.1:c.-16-306dup ENSP00000497283.1:n.-16-306dup
ENST00000650427.1:c.-16-306dup ENSP00000497367.1:n.-16-306dup
ENST00000282561.3:c.-16-306dup ENSP00000282561.3:n.-16-306dup
NM_000165.4:c.-16-306dup NP_000156.1:n.-16-306dup
NM_000165.5:c.-16-306dup MANE Select NP_000156.1:n.-16-306dup
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