Canonical Allele Identifier: CA394822372

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947779G>C , CM000678.2:g.13947779G>C	GRCh38
NC_000016.9:g.14041636G>C , CM000678.1:g.14041636G>C	GRCh37
NC_000016.8:g.13949137G>C	NCBI36
NG_011442.1:g.32623G>C , LRG_463:g.32623G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2183G>C MANE Select	NP_005227.1:p.Ser728Thr
ENST00000311895.8:c.2183G>C MANE Select	ENSP00000310520.7:p.Ser728Thr
NM_005236.2:c.2183G>C , LRG_463t1:c.2183G>C	NP_005227.1:p.Ser728Thr
ENST00000311895.7:c.2183G>C	ENSP00000310520.7:p.Ser728Thr
ENST00000389138.7:n.1460G>C
ENST00000462862.1:c.496G>C	ENSP00000461322.1:n.496G>C
ENST00000682617.1:c.2321G>C	ENSP00000507912.1:p.Ser774Thr
ENST00000683962.1:c.*1877G>C	ENSP00000506854.1:n.*1877G>C
XM_011522424.1:c.2321G>C	XP_011520726.1:p.Ser774Thr
XM_011522424.3:c.2321G>C	XP_011520726.1:p.Ser774Thr
XM_011522425.1:c.1640G>C	XP_011520727.1:p.Ser547Thr
XM_011522426.1:c.1394G>C	XP_011520728.1:p.Ser465Thr
XM_011522427.1:c.833G>C	XP_011520729.1:p.Ser278Thr
XM_017023043.2:c.1394G>C	XP_016878532.1:p.Ser465Thr
XR_932805.1:n.2342G>C