Canonical Allele Identifier: CA2209073442

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935663C= , CM000678.2:g.13935663C=	GRCh38
NC_000016.9:g.14029520C= , CM000678.1:g.14029520C=	GRCh37
NC_000016.8:g.13937021C=	NCBI36
NG_011442.1:g.20507C= , LRG_463:g.20507C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1809C=
ENST00000682617.1:c.1869C=	ENSP00000507912.1:p.Tyr623=
ENST00000682826.1:c.*1045C=	ENSP00000507274.1:n.*1045C=
ENST00000682909.1:n.3771C=
ENST00000683277.1:n.3376C=
ENST00000683407.1:n.1739C=
ENST00000683962.1:c.*1425C=	ENSP00000506854.1:n.*1425C=
ENST00000311895.8:c.1731C= MANE Select	ENSP00000310520.7:p.Tyr577=
ENST00000311895.7:c.1731C=	ENSP00000310520.7:p.Tyr577=
ENST00000389138.7:n.1008C=
NM_005236.2:c.1731C= , LRG_463t1:c.1731C=	NP_005227.1:p.Tyr577=
XM_011522424.1:c.1869C=	XP_011520726.1:p.Tyr623=
XM_011522425.1:c.1188C=	XP_011520727.1:p.Tyr396=
XM_011522426.1:c.942C=	XP_011520728.1:p.Tyr314=
XM_011522427.1:c.381C=	XP_011520729.1:p.Tyr127=
XR_932805.1:n.1890C=
XM_011522424.3:c.1869C=	XP_011520726.1:p.Tyr623=
XM_017023043.2:c.942C=	XP_016878532.1:p.Tyr314=
NM_005236.3:c.1731C= MANE Select	NP_005227.1:p.Tyr577=