Canonical Allele Identifier: CA493690175

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948128T>C , CM000678.2:g.13948128T>C	GRCh38
NC_000016.9:g.14041985T>C , CM000678.1:g.14041985T>C	GRCh37
NC_000016.8:g.13949486T>C	NCBI36
NG_011442.1:g.32972T>C , LRG_463:g.32972T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2532T>C MANE Select	NP_005227.1:p.Tyr844=
ENST00000311895.8:c.2532T>C MANE Select	ENSP00000310520.7:p.Tyr844=
NM_005236.2:c.2532T>C , LRG_463t1:c.2532T>C	NP_005227.1:p.Tyr844=
ENST00000311895.7:c.2532T>C	ENSP00000310520.7:p.Tyr844=
ENST00000389138.7:n.1809T>C
ENST00000682617.1:c.2670T>C	ENSP00000507912.1:p.Tyr890=
ENST00000683962.1:c.*2226T>C	ENSP00000506854.1:n.*2226T>C
XM_011522424.1:c.2670T>C	XP_011520726.1:p.Tyr890=
XM_011522424.3:c.2670T>C	XP_011520726.1:p.Tyr890=
XM_011522425.1:c.1989T>C	XP_011520727.1:p.Tyr663=
XM_011522426.1:c.1743T>C	XP_011520728.1:p.Tyr581=
XM_011522427.1:c.1182T>C	XP_011520729.1:p.Tyr394=
XM_017023043.2:c.1743T>C	XP_016878532.1:p.Tyr581=
XR_932805.1:n.2691T>C