Canonical Allele Identifier: CA522353952

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1557662617
• gnomAD v2: 1-35259807-CG-C
• gnomAD v4: 1-34794206-CG-C
• MyVariant Identifiers: chr1:g.35259808del (hg19) ; chr1:g.34794207del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794209del , CM000663.2:g.34794209del	GRCh38
NC_000001.10:g.35259810del , CM000663.1:g.35259810del	GRCh37
NC_000001.9:g.35032397del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-5del (GJA4) MANE Select	ENSP00000343676.4:n.-5del
ENST00000342280.4:c.-5del (GJA4)	ENSP00000343676.4:n.-5del
ENST00000426886.1:c.207+61564del (SMIM12)	ENSP00000429902.1:n.207+61564del
ENST00000450137.1:c.-5del (GJA4)	ENSP00000409186.1:n.-5del
NM_002060.2:c.-5del (GJA4)	NP_002051.2:n.-5del
XM_005270750.1:c.-5del (GJA4)	XP_005270807.1:n.-5del
XR_947179.1:n.1001+4164del
XM_005270750.2:c.-5del (GJA4)	XP_005270807.1:n.-5del
XM_017001043.2:c.-5del (GJA4)	XP_016856532.1:n.-5del
XR_001737967.1:n.1023+4164del
NM_002060.3:c.-5del (GJA4) MANE Select	NP_002051.2:n.-5del