Canonical Allele Identifier: CA20579479

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs920054528
• MyVariant Identifiers: chr1:g.35259629_35259630del (hg19) ; chr1:g.34794028_34794029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794029_34794030del , CM000663.2:g.34794029_34794030del	GRCh38
NC_000001.10:g.35259630_35259631del , CM000663.1:g.35259630_35259631del	GRCh37
NC_000001.9:g.35032217_35032218del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-168_-17-167del (GJA4) MANE Select	ENSP00000343676.4:n.-17-168_-17-167del
ENST00000342280.4:c.-17-168_-17-167del (GJA4)	ENSP00000343676.4:n.-17-168_-17-167del
ENST00000426886.1:c.207+61742_207+61743del (SMIM12)	ENSP00000429902.1:n.207+61742_207+61743del
ENST00000450137.1:c.-112-73_-112-72del (GJA4)	ENSP00000409186.1:n.-112-73_-112-72del
NM_002060.2:c.-17-168_-17-167del (GJA4)	NP_002051.2:n.-17-168_-17-167del
XM_005270750.1:c.-112-73_-112-72del (GJA4)	XP_005270807.1:n.-112-73_-112-72del
XR_947179.1:n.1001+4342_1001+4343del
XM_005270750.2:c.-112-73_-112-72del (GJA4)	XP_005270807.1:n.-112-73_-112-72del
XM_017001043.2:c.-17-168_-17-167del (GJA4)	XP_016856532.1:n.-17-168_-17-167del
XR_001737967.1:n.1023+4342_1023+4343del
NM_002060.3:c.-17-168_-17-167del (GJA4) MANE Select	NP_002051.2:n.-17-168_-17-167del