Canonical Allele Identifier: CA522353943

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1264540693
• gnomAD v2: 1-35259705-AG-A
• gnomAD v4: 1-34794104-AG-A
• MyVariant Identifiers: chr1:g.35259706del (hg19) ; chr1:g.34794105del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794105del , CM000663.2:g.34794105del	GRCh38
NC_000001.10:g.35259706del , CM000663.1:g.35259706del	GRCh37
NC_000001.9:g.35032293del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-92del (GJA4) MANE Select	ENSP00000343676.4:n.-17-92del
ENST00000342280.4:c.-17-92del (GJA4)	ENSP00000343676.4:n.-17-92del
ENST00000426886.1:c.207+61666del (SMIM12)	ENSP00000429902.1:n.207+61666del
ENST00000450137.1:c.-109del (GJA4)	ENSP00000409186.1:n.-109del
NM_002060.2:c.-17-92del (GJA4)	NP_002051.2:n.-17-92del
XM_005270750.1:c.-109del (GJA4)	XP_005270807.1:n.-109del
XR_947179.1:n.1001+4266del
XM_005270750.2:c.-109del (GJA4)	XP_005270807.1:n.-109del
XM_017001043.2:c.-17-92del (GJA4)	XP_016856532.1:n.-17-92del
XR_001737967.1:n.1023+4266del
NM_002060.3:c.-17-92del (GJA4) MANE Select	NP_002051.2:n.-17-92del