Canonical Allele Identifier: CA394819802

Gene: ERCC4

Linked Data

• dbSNP Id: rs121913050
• gnomAD v2: 16-14020487-G-T
• MyVariant Identifiers: chr16:g.14020487G>T (hg19) ; chr16:g.13926630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13926630G>T , CM000678.2:g.13926630G>T	GRCh38
NC_000016.9:g.14020487G>T , CM000678.1:g.14020487G>T	GRCh37
NC_000016.8:g.13927988G>T	NCBI36
NG_011442.1:g.11474G>T , LRG_463:g.11474G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.446G>T
ENST00000682568.1:n.388G>T
ENST00000682617.1:c.596G>T	ENSP00000507912.1:p.Arg199Leu
ENST00000682826.1:c.458G>T	ENSP00000507274.1:p.Arg153Leu
ENST00000682909.1:n.2498G>T
ENST00000683277.1:n.2103G>T
ENST00000683407.1:n.466G>T
ENST00000683962.1:c.*152G>T	ENSP00000506854.1:n.*152G>T
ENST00000311895.8:c.458G>T MANE Select	ENSP00000310520.7:p.Arg153Leu
ENST00000311895.7:c.458G>T	ENSP00000310520.7:p.Arg153Leu
ENST00000574194.1:c.79G>T
ENST00000575156.5:c.458G>T	ENSP00000459933.1:p.Arg153Leu
ENST00000576348.1:n.433G>T
NM_005236.2:c.458G>T , LRG_463t1:c.458G>T	NP_005227.1:p.Arg153Leu
XM_011522424.1:c.596G>T	XP_011520726.1:p.Arg199Leu
XM_011522425.1:c.-86G>T	XP_011520727.1:n.-86G>T
XR_932805.1:n.617G>T
XM_011522424.3:c.596G>T	XP_011520726.1:p.Arg199Leu
XM_017023043.2:c.-480G>T	XP_016878532.1:n.-480G>T
NM_005236.3:c.458G>T MANE Select	NP_005227.1:p.Arg153Leu