Canonical Allele Identifier: CA754949

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs753894256
• ExAC: 1:35259751 GAGA / G
• gnomAD v2: 1-35259751-GAGA-G
• gnomAD v3: 1-34794150-GAGA-G
• gnomAD v4: 1-34794150-GAGA-G
• MyVariant Identifiers: chr1:g.35259752_35259754del (hg19) ; chr1:g.34794151_34794153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794153_34794155del , CM000663.2:g.34794153_34794155del	GRCh38
NC_000001.10:g.35259754_35259756del , CM000663.1:g.35259754_35259756del	GRCh37
NC_000001.9:g.35032341_35032343del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-44_-17-42del (GJA4) MANE Select	ENSP00000343676.4:n.-17-44_-17-42del
ENST00000342280.4:c.-17-44_-17-42del (GJA4)	ENSP00000343676.4:n.-17-44_-17-42del
ENST00000426886.1:c.207+61618_207+61620del (SMIM12)	ENSP00000429902.1:n.207+61618_207+61620del
ENST00000450137.1:c.-61_-59del (GJA4)	ENSP00000409186.1:n.-61_-59del
NM_002060.2:c.-17-44_-17-42del (GJA4)	NP_002051.2:n.-17-44_-17-42del
XM_005270750.1:c.-61_-59del (GJA4)	XP_005270807.1:n.-61_-59del
XR_947179.1:n.1001+4218_1001+4220del
XM_005270750.2:c.-61_-59del (GJA4)	XP_005270807.1:n.-61_-59del
XM_017001043.2:c.-17-44_-17-42del (GJA4)	XP_016856532.1:n.-17-44_-17-42del
XR_001737967.1:n.1023+4218_1023+4220del
NM_002060.3:c.-17-44_-17-42del (GJA4) MANE Select	NP_002051.2:n.-17-44_-17-42del