Canonical Allele Identifier: CA493689817

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032549390
• COSMIC: COSM5983939
• MyVariant Identifiers: chr16:g.14041727G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947870G>C , CM000678.2:g.13947870G>C	GRCh38
NC_000016.9:g.14041727G>C , CM000678.1:g.14041727G>C	GRCh37
NC_000016.8:g.13949228G>C	NCBI36
NG_011442.1:g.32714G>C , LRG_463:g.32714G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2412G>C	ENSP00000507912.1:p.Leu804=
ENST00000683962.1:c.*1968G>C	ENSP00000506854.1:n.*1968G>C
ENST00000311895.8:c.2274G>C MANE Select	ENSP00000310520.7:p.Leu758=
ENST00000311895.7:c.2274G>C	ENSP00000310520.7:p.Leu758=
ENST00000389138.7:n.1551G>C
ENST00000462862.1:c.587G>C	ENSP00000461322.1:n.587G>C
NM_005236.2:c.2274G>C , LRG_463t1:c.2274G>C	NP_005227.1:p.Leu758=
XM_011522424.1:c.2412G>C	XP_011520726.1:p.Leu804=
XM_011522425.1:c.1731G>C	XP_011520727.1:p.Leu577=
XM_011522426.1:c.1485G>C	XP_011520728.1:p.Leu495=
XM_011522427.1:c.924G>C	XP_011520729.1:p.Leu308=
XR_932805.1:n.2433G>C
XM_011522424.3:c.2412G>C	XP_011520726.1:p.Leu804=
XM_017023043.2:c.1485G>C	XP_016878532.1:p.Leu495=
NM_005236.3:c.2274G>C MANE Select	NP_005227.1:p.Leu758=