Canonical Allele Identifier: CA394822414

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947787G>C , CM000678.2:g.13947787G>C	GRCh38
NC_000016.9:g.14041644G>C , CM000678.1:g.14041644G>C	GRCh37
NC_000016.8:g.13949145G>C	NCBI36
NG_011442.1:g.32631G>C , LRG_463:g.32631G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2191G>C MANE Select	NP_005227.1:p.Asp731His
ENST00000311895.8:c.2191G>C MANE Select	ENSP00000310520.7:p.Asp731His
NM_005236.2:c.2191G>C , LRG_463t1:c.2191G>C	NP_005227.1:p.Asp731His
ENST00000311895.7:c.2191G>C	ENSP00000310520.7:p.Asp731His
ENST00000389138.7:n.1468G>C
ENST00000462862.1:c.504G>C	ENSP00000461322.1:n.504G>C
ENST00000682617.1:c.2329G>C	ENSP00000507912.1:p.Asp777His
ENST00000683962.1:c.*1885G>C	ENSP00000506854.1:n.*1885G>C
XM_011522424.1:c.2329G>C	XP_011520726.1:p.Asp777His
XM_011522424.3:c.2329G>C	XP_011520726.1:p.Asp777His
XM_011522425.1:c.1648G>C	XP_011520727.1:p.Asp550His
XM_011522426.1:c.1402G>C	XP_011520728.1:p.Asp468His
XM_011522427.1:c.841G>C	XP_011520729.1:p.Asp281His
XM_017023043.2:c.1402G>C	XP_016878532.1:p.Asp468His
XR_932805.1:n.2350G>C