Canonical Allele Identifier: CA7910758

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948110T>C , CM000678.2:g.13948110T>C	GRCh38
NC_000016.9:g.14041967T>C , CM000678.1:g.14041967T>C	GRCh37
NC_000016.8:g.13949468T>C	NCBI36
NG_011442.1:g.32954T>C , LRG_463:g.32954T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2514T>C MANE Select	NP_005227.1:p.Leu838=
ENST00000311895.8:c.2514T>C MANE Select	ENSP00000310520.7:p.Leu838=
NM_005236.2:c.2514T>C , LRG_463t1:c.2514T>C	NP_005227.1:p.Leu838=
ENST00000311895.7:c.2514T>C	ENSP00000310520.7:p.Leu838=
ENST00000389138.7:n.1791T>C
ENST00000682617.1:c.2652T>C	ENSP00000507912.1:p.Leu884=
ENST00000683962.1:c.*2208T>C	ENSP00000506854.1:n.*2208T>C
XM_011522424.1:c.2652T>C	XP_011520726.1:p.Leu884=
XM_011522424.3:c.2652T>C	XP_011520726.1:p.Leu884=
XM_011522425.1:c.1971T>C	XP_011520727.1:p.Leu657=
XM_011522426.1:c.1725T>C	XP_011520728.1:p.Leu575=
XM_011522427.1:c.1164T>C	XP_011520729.1:p.Leu388=
XM_017023043.2:c.1725T>C	XP_016878532.1:p.Leu575=
XR_932805.1:n.2673T>C