Canonical Allele Identifier: CA339320979

Gene: GJA4 SMIM12

Linked Data

• gnomAD v4: 1-34794343-G-C
• MyVariant Identifiers: chr1:g.35259944G>C (hg19) ; chr1:g.34794343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794343G>C , CM000663.2:g.34794343G>C	GRCh38
NC_000001.10:g.35259944G>C , CM000663.1:g.35259944G>C	GRCh37
NC_000001.9:g.35032531G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.130G>C (GJA4) MANE Select	ENSP00000343676.4:p.Val44Leu
ENST00000342280.4:c.130G>C (GJA4)	ENSP00000343676.4:p.Val44Leu
ENST00000426886.1:c.207+61428C>G (SMIM12)	ENSP00000429902.1:n.207+61428C>G
ENST00000450137.1:c.130G>C (GJA4)	ENSP00000409186.1:p.Val44Leu
NM_002060.2:c.130G>C (GJA4)	NP_002051.2:p.Val44Leu
XM_005270750.1:c.130G>C (GJA4)	XP_005270807.1:p.Val44Leu
XR_947179.1:n.1001+4028C>G
XM_005270750.2:c.130G>C (GJA4)	XP_005270807.1:p.Val44Leu
XM_017001043.2:c.130G>C (GJA4)	XP_016856532.1:p.Val44Leu
XR_001737967.1:n.1023+4028C>G
NM_002060.3:c.130G>C (GJA4) MANE Select	NP_002051.2:p.Val44Leu