Canonical Allele Identifier: CA2644771063

Gene: GJA4 SMIM12

Linked Data

• gnomAD v4: 1-34794076-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794076C>G , CM000663.2:g.34794076C>G	GRCh38
NC_000001.10:g.35259677C>G , CM000663.1:g.35259677C>G	GRCh37
NC_000001.9:g.35032264C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-121C>G (GJA4) MANE Select	ENSP00000343676.4:n.-17-121C>G
ENST00000342280.4:c.-17-121C>G (GJA4)	ENSP00000343676.4:n.-17-121C>G
ENST00000426886.1:c.207+61695G>C (SMIM12)	ENSP00000429902.1:n.207+61695G>C
ENST00000450137.1:c.-112-26C>G (GJA4)	ENSP00000409186.1:n.-112-26C>G
NM_002060.2:c.-17-121C>G (GJA4)	NP_002051.2:n.-17-121C>G
XM_005270750.1:c.-112-26C>G (GJA4)	XP_005270807.1:n.-112-26C>G
XR_947179.1:n.1001+4295G>C
XM_005270750.2:c.-112-26C>G (GJA4)	XP_005270807.1:n.-112-26C>G
XM_017001043.2:c.-17-121C>G (GJA4)	XP_016856532.1:n.-17-121C>G
XR_001737967.1:n.1023+4295G>C
NM_002060.3:c.-17-121C>G (GJA4) MANE Select	NP_002051.2:n.-17-121C>G