Canonical Allele Identifier: CA735275147

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1468801047
• gnomAD v3: 1-34794412-GACCA-G
• gnomAD v4: 1-34794412-GACCA-G
• MyVariant Identifiers: chr1:g.35260014_35260017del (hg19) ; chr1:g.34794413_34794416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794413_34794416del , CM000663.2:g.34794413_34794416del	GRCh38
NC_000001.10:g.35260014_35260017del , CM000663.1:g.35260014_35260017del	GRCh37
NC_000001.9:g.35032601_35032604del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.200_203del (GJA4) MANE Select	ENSP00000343676.4:p.Asp67GlyfsTer?
ENST00000342280.4:c.200_203del (GJA4)	ENSP00000343676.4:p.Asp67GlyfsTer?
ENST00000426886.1:c.207+61355_207+61358del (SMIM12)	ENSP00000429902.1:n.207+61355_207+61358del
ENST00000450137.1:c.200_203del (GJA4)	ENSP00000409186.1:p.Asp67GlyfsTer?
NM_002060.2:c.200_203del (GJA4)	NP_002051.2:p.Asp67GlyfsTer?
XM_005270750.1:c.200_203del (GJA4)	XP_005270807.1:p.Asp67GlyfsTer?
XR_947179.1:n.1001+3955_1001+3958del
XM_005270750.2:c.200_203del (GJA4)	XP_005270807.1:p.Asp67GlyfsTer?
XM_017001043.2:c.200_203del (GJA4)	XP_016856532.1:p.Asp67GlyfsTer?
XR_001737967.1:n.1023+3955_1023+3958del
NM_002060.3:c.200_203del (GJA4) MANE Select	NP_002051.2:p.Asp67GlyfsTer?