Canonical Allele Identifier: CA735275229

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1423747167
• gnomAD v3: 1-34794464-TC-T
• gnomAD v4: 1-34794464-TC-T
• MyVariant Identifiers: chr1:g.35260066del (hg19) ; chr1:g.34794465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794465del , CM000663.2:g.34794465del	GRCh38
NC_000001.10:g.35260066del , CM000663.1:g.35260066del	GRCh37
NC_000001.9:g.35032653del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.252del (GJA4) MANE Select	ENSP00000343676.4:p.Phe84LeufsTer?
ENST00000342280.4:c.252del (GJA4)	ENSP00000343676.4:p.Phe84LeufsTer?
ENST00000426886.1:c.207+61306del (SMIM12)	ENSP00000429902.1:n.207+61306del
ENST00000450137.1:c.252del (GJA4)	ENSP00000409186.1:p.Phe84LeufsTer?
NM_002060.2:c.252del (GJA4)	NP_002051.2:p.Phe84LeufsTer?
XM_005270750.1:c.252del (GJA4)	XP_005270807.1:p.Phe84LeufsTer?
XR_947179.1:n.1001+3906del
XM_005270750.2:c.252del (GJA4)	XP_005270807.1:p.Phe84LeufsTer?
XM_017001043.2:c.252del (GJA4)	XP_016856532.1:p.Phe84LeufsTer?
XR_001737967.1:n.1023+3906del
NM_002060.3:c.252del (GJA4) MANE Select	NP_002051.2:p.Phe84LeufsTer?