Canonical Allele Identifier: CA394822611

Gene: ERCC4

Linked Data

• dbSNP Id: rs1231006454
• MyVariant Identifiers: chr16:g.14041682C>A (hg19) ; chr16:g.13947825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947825C>A , CM000678.2:g.13947825C>A	GRCh38
NC_000016.9:g.14041682C>A , CM000678.1:g.14041682C>A	GRCh37
NC_000016.8:g.13949183C>A	NCBI36
NG_011442.1:g.32669C>A , LRG_463:g.32669C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2367C>A	ENSP00000507912.1:p.Ser789Arg
ENST00000683962.1:c.*1923C>A	ENSP00000506854.1:n.*1923C>A
ENST00000311895.8:c.2229C>A MANE Select	ENSP00000310520.7:p.Ser743Arg
ENST00000311895.7:c.2229C>A	ENSP00000310520.7:p.Ser743Arg
ENST00000389138.7:n.1506C>A
ENST00000462862.1:c.542C>A	ENSP00000461322.1:n.542C>A
NM_005236.2:c.2229C>A , LRG_463t1:c.2229C>A	NP_005227.1:p.Ser743Arg
XM_011522424.1:c.2367C>A	XP_011520726.1:p.Ser789Arg
XM_011522425.1:c.1686C>A	XP_011520727.1:p.Ser562Arg
XM_011522426.1:c.1440C>A	XP_011520728.1:p.Ser480Arg
XM_011522427.1:c.879C>A	XP_011520729.1:p.Ser293Arg
XR_932805.1:n.2388C>A
XM_011522424.3:c.2367C>A	XP_011520726.1:p.Ser789Arg
XM_017023043.2:c.1440C>A	XP_016878532.1:p.Ser480Arg
NM_005236.3:c.2229C>A MANE Select	NP_005227.1:p.Ser743Arg