Canonical Allele Identifier: CA394824573

Gene: ERCC4

Linked Data

• dbSNP Id: rs562305007
• MyVariant Identifiers: chr16:g.14042061G>C (hg19) ; chr16:g.13948204G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948204G>C , CM000678.2:g.13948204G>C	GRCh38
NC_000016.9:g.14042061G>C , CM000678.1:g.14042061G>C	GRCh37
NC_000016.8:g.13949562G>C	NCBI36
NG_011442.1:g.33048G>C , LRG_463:g.33048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2746G>C	ENSP00000507912.1:p.Val916Leu
ENST00000683962.1:c.*2302G>C	ENSP00000506854.1:n.*2302G>C
ENST00000311895.8:c.2608G>C MANE Select	ENSP00000310520.7:p.Val870Leu
ENST00000311895.7:c.2608G>C	ENSP00000310520.7:p.Val870Leu
ENST00000389138.7:n.1885G>C
NM_005236.2:c.2608G>C , LRG_463t1:c.2608G>C	NP_005227.1:p.Val870Leu
XM_011522424.1:c.2746G>C	XP_011520726.1:p.Val916Leu
XM_011522425.1:c.2065G>C	XP_011520727.1:p.Val689Leu
XM_011522426.1:c.1819G>C	XP_011520728.1:p.Val607Leu
XM_011522427.1:c.1258G>C	XP_011520729.1:p.Val420Leu
XR_932805.1:n.2767G>C
XM_011522424.3:c.2746G>C	XP_011520726.1:p.Val916Leu
XM_017023043.2:c.1819G>C	XP_016878532.1:p.Val607Leu
NM_005236.3:c.2608G>C MANE Select	NP_005227.1:p.Val870Leu