Canonical Allele Identifier: CA2644771202

Gene: GJA4 SMIM12

Linked Data

• gnomAD v4: 1-34794350-G-GTGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794351_34794354dup , CM000663.2:g.34794351_34794354dup	GRCh38
NC_000001.10:g.35259952_35259955dup , CM000663.1:g.35259952_35259955dup	GRCh37
NC_000001.9:g.35032539_35032542dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.138_141dup (GJA4) MANE Select	ENSP00000343676.4:p.Glu48Ter
ENST00000342280.4:c.138_141dup (GJA4)	ENSP00000343676.4:p.Glu48Ter
ENST00000426886.1:c.207+61417_207+61420dup (SMIM12)	ENSP00000429902.1:n.207+61417_207+61420dup
ENST00000450137.1:c.138_141dup (GJA4)	ENSP00000409186.1:p.Glu48Ter
NM_002060.2:c.138_141dup (GJA4)	NP_002051.2:p.Glu48Ter
XM_005270750.1:c.138_141dup (GJA4)	XP_005270807.1:p.Glu48Ter
XR_947179.1:n.1001+4017_1001+4020dup
XM_005270750.2:c.138_141dup (GJA4)	XP_005270807.1:p.Glu48Ter
XM_017001043.2:c.138_141dup (GJA4)	XP_016856532.1:p.Glu48Ter
XR_001737967.1:n.1023+4017_1023+4020dup
NM_002060.3:c.138_141dup (GJA4) MANE Select	NP_002051.2:p.Glu48Ter