Canonical Allele Identifier: CA7910540

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935734A>C , CM000678.2:g.13935734A>C	GRCh38
NC_000016.9:g.14029591A>C , CM000678.1:g.14029591A>C	GRCh37
NC_000016.8:g.13937092A>C	NCBI36
NG_011442.1:g.20578A>C , LRG_463:g.20578A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.1802A>C MANE Select	NP_005227.1:p.Lys601Thr
ENST00000311895.8:c.1802A>C MANE Select	ENSP00000310520.7:p.Lys601Thr
NM_005236.2:c.1802A>C , LRG_463t1:c.1802A>C	NP_005227.1:p.Lys601Thr
ENST00000311895.7:c.1802A>C	ENSP00000310520.7:p.Lys601Thr
ENST00000389138.7:n.1079A>C
ENST00000682568.1:n.1880A>C
ENST00000682617.1:c.1940A>C	ENSP00000507912.1:p.Lys647Thr
ENST00000682826.1:c.*1116A>C	ENSP00000507274.1:n.*1116A>C
ENST00000682909.1:n.3842A>C
ENST00000683277.1:n.3447A>C
ENST00000683407.1:n.1810A>C
ENST00000683962.1:c.*1496A>C	ENSP00000506854.1:n.*1496A>C
XM_011522424.1:c.1940A>C	XP_011520726.1:p.Lys647Thr
XM_011522424.3:c.1940A>C	XP_011520726.1:p.Lys647Thr
XM_011522425.1:c.1259A>C	XP_011520727.1:p.Lys420Thr
XM_011522426.1:c.1013A>C	XP_011520728.1:p.Lys338Thr
XM_011522427.1:c.452A>C	XP_011520729.1:p.Lys151Thr
XM_017023043.2:c.1013A>C	XP_016878532.1:p.Lys338Thr
XR_932805.1:n.1961A>C