Canonical Allele Identifier: CA394821106

Gene: ERCC4

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947640C>T , CM000678.2:g.13947640C>T	GRCh38
NC_000016.9:g.14041497C>T , CM000678.1:g.14041497C>T	GRCh37
NC_000016.8:g.13948998C>T	NCBI36
NG_011442.1:g.32484C>T , LRG_463:g.32484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2182C>T	ENSP00000507912.1:p.Gln728Ter
ENST00000683962.1:c.*1738C>T	ENSP00000506854.1:n.*1738C>T
ENST00000311895.8:c.2044C>T MANE Select	ENSP00000310520.7:p.Gln682Ter
ENST00000311895.7:c.2044C>T	ENSP00000310520.7:p.Gln682Ter
ENST00000389138.7:n.1321C>T
ENST00000462862.1:c.357C>T	ENSP00000461322.1:n.357C>T
NM_005236.2:c.2044C>T , LRG_463t1:c.2044C>T	NP_005227.1:p.Gln682Ter
XM_011522424.1:c.2182C>T	XP_011520726.1:p.Gln728Ter
XM_011522425.1:c.1501C>T	XP_011520727.1:p.Gln501Ter
XM_011522426.1:c.1255C>T	XP_011520728.1:p.Gln419Ter
XM_011522427.1:c.694C>T	XP_011520729.1:p.Gln232Ter
XR_932805.1:n.2203C>T
XM_011522424.3:c.2182C>T	XP_011520726.1:p.Gln728Ter
XM_017023043.2:c.1255C>T	XP_016878532.1:p.Gln419Ter
NM_005236.3:c.2044C>T MANE Select	NP_005227.1:p.Gln682Ter