Canonical Allele Identifier: CA158885

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 134141
• ClinVar RCV Id: RCV000120814 ; RCV000474309 ; RCV001356061 ; RCV003315750
• dbSNP Id: rs150077735
• ExAC: 16:14042187 G / A
• gnomAD v2: 16-14042187-G-A
• gnomAD v3: 16-13948330-G-A
• gnomAD v4: 16-13948330-G-A
• MyVariant Identifiers: chr16:g.14042187G>A (hg19) ; chr16:g.13948330G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948330G>A , CM000678.2:g.13948330G>A	GRCh38
NC_000016.9:g.14042187G>A , CM000678.1:g.14042187G>A	GRCh37
NC_000016.8:g.13949688G>A	NCBI36
NG_011442.1:g.33174G>A , LRG_463:g.33174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2872G>A	ENSP00000507912.1:p.Gly958Arg
ENST00000683962.1:c.*2428G>A	ENSP00000506854.1:n.*2428G>A
ENST00000311895.8:c.2734G>A MANE Select	ENSP00000310520.7:p.Gly912Arg
ENST00000311895.7:c.2734G>A	ENSP00000310520.7:p.Gly912Arg
ENST00000389138.7:n.2011G>A
NM_005236.2:c.2734G>A , LRG_463t1:c.2734G>A	NP_005227.1:p.Gly912Arg
XM_011522424.1:c.2872G>A	XP_011520726.1:p.Gly958Arg
XM_011522425.1:c.2191G>A	XP_011520727.1:p.Gly731Arg
XM_011522426.1:c.1945G>A	XP_011520728.1:p.Gly649Arg
XM_011522427.1:c.1384G>A	XP_011520729.1:p.Gly462Arg
XR_932805.1:n.2893G>A
XM_011522424.3:c.2872G>A	XP_011520726.1:p.Gly958Arg
XM_017023043.2:c.1945G>A	XP_016878532.1:p.Gly649Arg
NM_005236.3:c.2734G>A MANE Select	NP_005227.1:p.Gly912Arg