Canonical Allele Identifier: CA278466697

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930789T>A , CM000678.2:g.13930789T>A	GRCh38
NC_000016.9:g.14024646T>A , CM000678.1:g.14024646T>A	GRCh37
NC_000016.8:g.13932147T>A	NCBI36
NG_011442.1:g.15633T>A , LRG_463:g.15633T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.872T>A MANE Select	NP_005227.1:p.Leu291Ter
ENST00000311895.8:c.872T>A MANE Select	ENSP00000310520.7:p.Leu291Ter
NM_005236.2:c.872T>A , LRG_463t1:c.872T>A	NP_005227.1:p.Leu291Ter
ENST00000311895.7:c.872T>A	ENSP00000310520.7:p.Leu291Ter
ENST00000574194.1:c.399T>A
ENST00000574781.1:n.549T>A
ENST00000575156.5:c.872T>A	ENSP00000459933.1:p.Leu291Ter
ENST00000682552.1:n.860T>A
ENST00000682568.1:n.950T>A
ENST00000682617.1:c.1010T>A	ENSP00000507912.1:p.Leu337Ter
ENST00000682826.1:c.*186T>A	ENSP00000507274.1:n.*186T>A
ENST00000682909.1:n.2912T>A
ENST00000683277.1:n.2517T>A
ENST00000683407.1:n.880T>A
ENST00000683962.1:c.*566T>A	ENSP00000506854.1:n.*566T>A
XM_011522424.1:c.1010T>A	XP_011520726.1:p.Leu337Ter
XM_011522424.3:c.1010T>A	XP_011520726.1:p.Leu337Ter
XM_011522425.1:c.329T>A	XP_011520727.1:p.Leu110Ter
XM_011522426.1:c.83T>A	XP_011520728.1:p.Leu28Ter
XM_017023043.2:c.83T>A	XP_016878532.1:p.Leu28Ter
XR_932805.1:n.1031T>A