Canonical Allele Identifier: CA7910497

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935509C>T , CM000678.2:g.13935509C>T	GRCh38
NC_000016.9:g.14029366C>T , CM000678.1:g.14029366C>T	GRCh37
NC_000016.8:g.13936867C>T	NCBI36
NG_011442.1:g.20353C>T , LRG_463:g.20353C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.1577C>T MANE Select	NP_005227.1:p.Pro526Leu
ENST00000311895.8:c.1577C>T MANE Select	ENSP00000310520.7:p.Pro526Leu
NM_005236.2:c.1577C>T , LRG_463t1:c.1577C>T	NP_005227.1:p.Pro526Leu
ENST00000311895.7:c.1577C>T	ENSP00000310520.7:p.Pro526Leu
ENST00000389138.7:n.854C>T
ENST00000682568.1:n.1655C>T
ENST00000682617.1:c.1715C>T	ENSP00000507912.1:p.Pro572Leu
ENST00000682826.1:c.*891C>T	ENSP00000507274.1:n.*891C>T
ENST00000682909.1:n.3617C>T
ENST00000683277.1:n.3222C>T
ENST00000683407.1:n.1585C>T
ENST00000683962.1:c.*1271C>T	ENSP00000506854.1:n.*1271C>T
XM_011522424.1:c.1715C>T	XP_011520726.1:p.Pro572Leu
XM_011522424.3:c.1715C>T	XP_011520726.1:p.Pro572Leu
XM_011522425.1:c.1034C>T	XP_011520727.1:p.Pro345Leu
XM_011522426.1:c.788C>T	XP_011520728.1:p.Pro263Leu
XM_011522427.1:c.227C>T	XP_011520729.1:p.Pro76Leu
XM_017023043.2:c.788C>T	XP_016878532.1:p.Pro263Leu
XR_932805.1:n.1736C>T