Canonical Allele Identifier: CA20579734

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs866011598
• gnomAD v3: 1-34794208-G-A
• gnomAD v4: 1-34794208-G-A
• MyVariant Identifiers: chr1:g.34794208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794208G>A , CM000663.2:g.34794208G>A	GRCh38
NC_000001.10:g.35259809G>A , CM000663.1:g.35259809G>A	GRCh37
NC_000001.9:g.35032396G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-6G>A (GJA4) MANE Select	ENSP00000343676.4:n.-6G>A
ENST00000342280.4:c.-6G>A (GJA4)	ENSP00000343676.4:n.-6G>A
ENST00000426886.1:c.207+61563C>T (SMIM12)	ENSP00000429902.1:n.207+61563C>T
ENST00000450137.1:c.-6G>A (GJA4)	ENSP00000409186.1:n.-6G>A
NM_002060.2:c.-6G>A (GJA4)	NP_002051.2:n.-6G>A
XM_005270750.1:c.-6G>A (GJA4)	XP_005270807.1:n.-6G>A
XR_947179.1:n.1001+4163C>T
XM_005270750.2:c.-6G>A (GJA4)	XP_005270807.1:n.-6G>A
XM_017001043.2:c.-6G>A (GJA4)	XP_016856532.1:n.-6G>A
XR_001737967.1:n.1023+4163C>T
NM_002060.3:c.-6G>A (GJA4) MANE Select	NP_002051.2:n.-6G>A