Canonical Allele Identifier: CA158876

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 134138
• ClinVar RCV Id: RCV000120811 ; RCV000476568 ; RCV000989535 ; RCV001034545 ; RCV002257429 ; RCV002515859
• dbSNP Id: rs4986933
• ExAC: 16:14042032 C / A
• gnomAD v2: 16-14042032-C-A
• gnomAD v3: 16-13948175-C-A
• gnomAD v4: 16-13948175-C-A
• MyVariant Identifiers: chr16:g.14042032C>A (hg19) ; chr16:g.13948175C>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948175C>A , CM000678.2:g.13948175C>A	GRCh38
NC_000016.9:g.14042032C>A , CM000678.1:g.14042032C>A	GRCh37
NC_000016.8:g.13949533C>A	NCBI36
NG_011442.1:g.33019C>A , LRG_463:g.33019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2717C>A	ENSP00000507912.1:p.Ala906Asp
ENST00000683962.1:c.*2273C>A	ENSP00000506854.1:n.*2273C>A
ENST00000311895.8:c.2579C>A MANE Select	ENSP00000310520.7:p.Ala860Asp
ENST00000311895.7:c.2579C>A	ENSP00000310520.7:p.Ala860Asp
ENST00000389138.7:n.1856C>A
NM_005236.2:c.2579C>A , LRG_463t1:c.2579C>A	NP_005227.1:p.Ala860Asp
XM_011522424.1:c.2717C>A	XP_011520726.1:p.Ala906Asp
XM_011522425.1:c.2036C>A	XP_011520727.1:p.Ala679Asp
XM_011522426.1:c.1790C>A	XP_011520728.1:p.Ala597Asp
XM_011522427.1:c.1229C>A	XP_011520729.1:p.Ala410Asp
XR_932805.1:n.2738C>A
XM_011522424.3:c.2717C>A	XP_011520726.1:p.Ala906Asp
XM_017023043.2:c.1790C>A	XP_016878532.1:p.Ala597Asp
NM_005236.3:c.2579C>A MANE Select	NP_005227.1:p.Ala860Asp