Canonical Allele Identifier: CA3981646

Gene: GJA1

Linked Data

• ClinVar Variation Id: 355158
• ClinVar RCV Id: RCV000284492 ; RCV000320948 ; RCV000383666 ; RCV000436781
• dbSNP Id: rs56199702
• ExAC: 6:121767966 T / A
• gnomAD v2: 6-121767966-T-A
• gnomAD v3: 6-121446820-T-A
• gnomAD v4: 6-121446820-T-A
• MyVariant Identifiers: chr6:g.121767966T>A (hg19) ; chr6:g.121446820T>A (hg38)

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