Canonical Allele Identifier: CA278484919

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947513C>T , CM000678.2:g.13947513C>T	GRCh38
NC_000016.9:g.14041370C>T , CM000678.1:g.14041370C>T	GRCh37
NC_000016.8:g.13948871C>T	NCBI36
NG_011442.1:g.32357C>T , LRG_463:g.32357C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2018-101C>T MANE Select	NP_005227.1:n.2018-101C>T
ENST00000311895.8:c.2018-101C>T MANE Select	ENSP00000310520.7:n.2018-101C>T
NM_005236.2:c.2018-101C>T , LRG_463t1:c.2018-101C>T	NP_005227.1:n.2018-101C>T
ENST00000311895.7:c.2018-101C>T	ENSP00000310520.7:n.2018-101C>T
ENST00000389138.7:n.1295-101C>T
ENST00000462862.1:c.331-101C>T	ENSP00000461322.1:n.331-101C>T
ENST00000682617.1:c.2156-101C>T	ENSP00000507912.1:n.2156-101C>T
ENST00000683962.1:c.*1712-101C>T	ENSP00000506854.1:n.*1712-101C>T
XM_011522424.1:c.2156-101C>T	XP_011520726.1:n.2156-101C>T
XM_011522424.3:c.2156-101C>T	XP_011520726.1:n.2156-101C>T
XM_011522425.1:c.1475-101C>T	XP_011520727.1:n.1475-101C>T
XM_011522426.1:c.1229-101C>T	XP_011520728.1:n.1229-101C>T
XM_011522427.1:c.668-101C>T	XP_011520729.1:n.668-101C>T
XM_017023043.2:c.1229-101C>T	XP_016878532.1:n.1229-101C>T
XR_932805.1:n.2177-101C>T