Canonical Allele Identifier: CA493689792

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947834C>T , CM000678.2:g.13947834C>T	GRCh38
NC_000016.9:g.14041691C>T , CM000678.1:g.14041691C>T	GRCh37
NC_000016.8:g.13949192C>T	NCBI36
NG_011442.1:g.32678C>T , LRG_463:g.32678C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2238C>T MANE Select	NP_005227.1:p.Ile746=
ENST00000311895.8:c.2238C>T MANE Select	ENSP00000310520.7:p.Ile746=
NM_005236.2:c.2238C>T , LRG_463t1:c.2238C>T	NP_005227.1:p.Ile746=
ENST00000311895.7:c.2238C>T	ENSP00000310520.7:p.Ile746=
ENST00000389138.7:n.1515C>T
ENST00000462862.1:c.551C>T	ENSP00000461322.1:n.551C>T
ENST00000682617.1:c.2376C>T	ENSP00000507912.1:p.Ile792=
ENST00000683962.1:c.*1932C>T	ENSP00000506854.1:n.*1932C>T
XM_011522424.1:c.2376C>T	XP_011520726.1:p.Ile792=
XM_011522424.3:c.2376C>T	XP_011520726.1:p.Ile792=
XM_011522425.1:c.1695C>T	XP_011520727.1:p.Ile565=
XM_011522426.1:c.1449C>T	XP_011520728.1:p.Ile483=
XM_011522427.1:c.888C>T	XP_011520729.1:p.Ile296=
XM_017023043.2:c.1449C>T	XP_016878532.1:p.Ile483=
XR_932805.1:n.2397C>T