Canonical Allele Identifier: CA3981646
Gene: GJA1 HGNC NCBI
ClinVar RCV:
RCV000284492
RCV000320948
RCV000383666
RCV000436781
ClinVar Variation:
355158
dbSNP:
56199702
gnomAD v2:
6:121767966 T / A
gnomAD v3:
6:121446820 T / A
gnomAD v4:
chr6-121446820-T-A
Joint Max Group AF 0.00736793 (NFE)
Genomes Max Group AF 0.00879389 (NFE)
Exomes Max Group AF 0.00724258 (NFE)
MyVariant.info:
GRCh38 chr6:g.121446820T>A
GRCh37 chr6:g.121767966T>A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446820T>A , CM000668.2:g.121446820T>A GRCh38
NC_000006.11:g.121767966T>A , CM000668.1:g.121767966T>A GRCh37
NC_000006.10:g.121809665T>A NCBI36
NG_008308.1:g.16222T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-12T>A MANE Select ENSP00000282561.3:n.-16-12T>A
ENST00000647564.1:c.-16-12T>A ENSP00000497565.1:n.-16-12T>A
ENST00000649003.1:c.-16-12T>A ENSP00000497283.1:n.-16-12T>A
ENST00000650427.1:c.-16-12T>A ENSP00000497367.1:n.-16-12T>A
ENST00000282561.3:c.-16-12T>A ENSP00000282561.3:n.-16-12T>A
NM_000165.4:c.-16-12T>A NP_000156.1:n.-16-12T>A
NM_000165.5:c.-16-12T>A MANE Select NP_000156.1:n.-16-12T>A
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