Canonical Allele Identifier: CA339320994

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1295018898
• gnomAD v4: 1-34794344-T-C
• MyVariant Identifiers: chr1:g.35259945T>C (hg19) ; chr1:g.34794344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794344T>C , CM000663.2:g.34794344T>C	GRCh38
NC_000001.10:g.35259945T>C , CM000663.1:g.35259945T>C	GRCh37
NC_000001.9:g.35032532T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.131T>C (GJA4) MANE Select	ENSP00000343676.4:p.Val44Ala
ENST00000342280.4:c.131T>C (GJA4)	ENSP00000343676.4:p.Val44Ala
ENST00000426886.1:c.207+61427A>G (SMIM12)	ENSP00000429902.1:n.207+61427A>G
ENST00000450137.1:c.131T>C (GJA4)	ENSP00000409186.1:p.Val44Ala
NM_002060.2:c.131T>C (GJA4)	NP_002051.2:p.Val44Ala
XM_005270750.1:c.131T>C (GJA4)	XP_005270807.1:p.Val44Ala
XR_947179.1:n.1001+4027A>G
XM_005270750.2:c.131T>C (GJA4)	XP_005270807.1:p.Val44Ala
XM_017001043.2:c.131T>C (GJA4)	XP_016856532.1:p.Val44Ala
XR_001737967.1:n.1023+4027A>G
NM_002060.3:c.131T>C (GJA4) MANE Select	NP_002051.2:p.Val44Ala