Canonical Allele Identifier: CA7910674

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947683C>T , CM000678.2:g.13947683C>T	GRCh38
NC_000016.9:g.14041540C>T , CM000678.1:g.14041540C>T	GRCh37
NC_000016.8:g.13949041C>T	NCBI36
NG_011442.1:g.32527C>T , LRG_463:g.32527C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2087C>T MANE Select	NP_005227.1:p.Pro696Leu
ENST00000311895.8:c.2087C>T MANE Select	ENSP00000310520.7:p.Pro696Leu
NM_005236.2:c.2087C>T , LRG_463t1:c.2087C>T	NP_005227.1:p.Pro696Leu
ENST00000311895.7:c.2087C>T	ENSP00000310520.7:p.Pro696Leu
ENST00000389138.7:n.1364C>T
ENST00000462862.1:c.400C>T	ENSP00000461322.1:n.400C>T
ENST00000682617.1:c.2225C>T	ENSP00000507912.1:p.Pro742Leu
ENST00000683962.1:c.*1781C>T	ENSP00000506854.1:n.*1781C>T
XM_011522424.1:c.2225C>T	XP_011520726.1:p.Pro742Leu
XM_011522424.3:c.2225C>T	XP_011520726.1:p.Pro742Leu
XM_011522425.1:c.1544C>T	XP_011520727.1:p.Pro515Leu
XM_011522426.1:c.1298C>T	XP_011520728.1:p.Pro433Leu
XM_011522427.1:c.737C>T	XP_011520729.1:p.Pro246Leu
XM_017023043.2:c.1298C>T	XP_016878532.1:p.Pro433Leu
XR_932805.1:n.2246C>T