Canonical Allele Identifier: CA20579972

Gene: GJA4 SMIM12

Linked Data

• ClinVar Variation Id: 2241758
• ClinVar RCV Id: RCV004105444
• dbSNP Id: rs1049872238
• gnomAD v3: 1-34794461-T-C
• gnomAD v4: 1-34794461-T-C
• MyVariant Identifiers: chr1:g.35260062T>C (hg19) ; chr1:g.34794461T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794461T>C , CM000663.2:g.34794461T>C	GRCh38
NC_000001.10:g.35260062T>C , CM000663.1:g.35260062T>C	GRCh37
NC_000001.9:g.35032649T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.248T>C (GJA4) MANE Select	ENSP00000343676.4:p.Leu83Pro
ENST00000342280.4:c.248T>C (GJA4)	ENSP00000343676.4:p.Leu83Pro
ENST00000426886.1:c.207+61310A>G (SMIM12)	ENSP00000429902.1:n.207+61310A>G
ENST00000450137.1:c.248T>C (GJA4)	ENSP00000409186.1:p.Leu83Pro
NM_002060.2:c.248T>C (GJA4)	NP_002051.2:p.Leu83Pro
XM_005270750.1:c.248T>C (GJA4)	XP_005270807.1:p.Leu83Pro
XR_947179.1:n.1001+3910A>G
XM_005270750.2:c.248T>C (GJA4)	XP_005270807.1:p.Leu83Pro
XM_017001043.2:c.248T>C (GJA4)	XP_016856532.1:p.Leu83Pro
XR_001737967.1:n.1023+3910A>G
NM_002060.3:c.248T>C (GJA4) MANE Select	NP_002051.2:p.Leu83Pro