Canonical Allele Identifier: CA1065776

Gene: GJA5

Linked Data

• ClinVar Variation Id: 1492720
• ClinVar RCV Id: RCV001981177 ; RCV004045376
• dbSNP Id: rs782428701
• ExAC: 1:147230977 C / G
• gnomAD v2: 1-147230977-C-G
• gnomAD v3: 1-147758869-C-G
• gnomAD v4: 1-147758869-C-G
• COSMIC: COSM1472552
• MyVariant Identifiers: chr1:g.147230977C>G (hg19) ; chr1:g.147758869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758869C>G , CM000663.2:g.147758869C>G	GRCh38
NC_000001.10:g.147230977C>G , CM000663.1:g.147230977C>G	GRCh37
NC_000001.9:g.145697601C>G	NCBI36
NG_009369.2:g.19506G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.370G>C MANE Select	ENSP00000463851.1:p.Glu124Gln
ENST00000430508.1:c.370G>C	ENSP00000407645.1:p.Glu124Gln
ENST00000579774.2:c.370G>C	ENSP00000463851.1:p.Glu124Gln
ENST00000621517.1:c.370G>C	ENSP00000484552.1:p.Glu124Gln
NM_005266.6:c.370G>C	NP_005257.2:p.Glu124Gln
NM_181703.3:c.370G>C	NP_859054.1:p.Glu124Gln
XM_005272951.3:c.370G>C	XP_005273008.1:p.Glu124Gln
XM_011509415.1:c.370G>C	XP_011507717.1:p.Glu124Gln
XR_922078.1:n.434-18692C>G
XR_922079.1:n.434-18692C>G
XM_005272951.4:c.370G>C	XP_005273008.1:p.Glu124Gln
XM_017001044.1:c.370G>C	XP_016856533.1:p.Glu124Gln
XR_922079.3:n.744-18692C>G
NM_181703.4:c.370G>C MANE Select	NP_859054.1:p.Glu124Gln
NM_005266.7:c.370G>C	NP_005257.2:p.Glu124Gln