Canonical Allele Identifier: CA394822227

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947752C>G , CM000678.2:g.13947752C>G	GRCh38
NC_000016.9:g.14041609C>G , CM000678.1:g.14041609C>G	GRCh37
NC_000016.8:g.13949110C>G	NCBI36
NG_011442.1:g.32596C>G , LRG_463:g.32596C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2156C>G MANE Select	NP_005227.1:p.Thr719Ser
ENST00000311895.8:c.2156C>G MANE Select	ENSP00000310520.7:p.Thr719Ser
NM_005236.2:c.2156C>G , LRG_463t1:c.2156C>G	NP_005227.1:p.Thr719Ser
ENST00000311895.7:c.2156C>G	ENSP00000310520.7:p.Thr719Ser
ENST00000389138.7:n.1433C>G
ENST00000462862.1:c.469C>G	ENSP00000461322.1:n.469C>G
ENST00000682617.1:c.2294C>G	ENSP00000507912.1:p.Thr765Ser
ENST00000683962.1:c.*1850C>G	ENSP00000506854.1:n.*1850C>G
XM_011522424.1:c.2294C>G	XP_011520726.1:p.Thr765Ser
XM_011522424.3:c.2294C>G	XP_011520726.1:p.Thr765Ser
XM_011522425.1:c.1613C>G	XP_011520727.1:p.Thr538Ser
XM_011522426.1:c.1367C>G	XP_011520728.1:p.Thr456Ser
XM_011522427.1:c.806C>G	XP_011520729.1:p.Thr269Ser
XM_017023043.2:c.1367C>G	XP_016878532.1:p.Thr456Ser
XR_932805.1:n.2315C>G