Canonical Allele Identifier: CA394822918

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032550570
• MyVariant Identifiers: chr16:g.14041754C>A (hg19) ; chr16:g.13947897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947897C>A , CM000678.2:g.13947897C>A	GRCh38
NC_000016.9:g.14041754C>A , CM000678.1:g.14041754C>A	GRCh37
NC_000016.8:g.13949255C>A	NCBI36
NG_011442.1:g.32741C>A , LRG_463:g.32741C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2439C>A	ENSP00000507912.1:p.Phe813Leu
ENST00000683962.1:c.*1995C>A	ENSP00000506854.1:n.*1995C>A
ENST00000311895.8:c.2301C>A MANE Select	ENSP00000310520.7:p.Phe767Leu
ENST00000311895.7:c.2301C>A	ENSP00000310520.7:p.Phe767Leu
ENST00000389138.7:n.1578C>A
ENST00000462862.1:c.614C>A	ENSP00000461322.1:n.614C>A
NM_005236.2:c.2301C>A , LRG_463t1:c.2301C>A	NP_005227.1:p.Phe767Leu
XM_011522424.1:c.2439C>A	XP_011520726.1:p.Phe813Leu
XM_011522425.1:c.1758C>A	XP_011520727.1:p.Phe586Leu
XM_011522426.1:c.1512C>A	XP_011520728.1:p.Phe504Leu
XM_011522427.1:c.951C>A	XP_011520729.1:p.Phe317Leu
XR_932805.1:n.2460C>A
XM_011522424.3:c.2439C>A	XP_011520726.1:p.Phe813Leu
XM_017023043.2:c.1512C>A	XP_016878532.1:p.Phe504Leu
NM_005236.3:c.2301C>A MANE Select	NP_005227.1:p.Phe767Leu