Canonical Allele Identifier: CA394822381

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947781A>C , CM000678.2:g.13947781A>C	GRCh38
NC_000016.9:g.14041638A>C , CM000678.1:g.14041638A>C	GRCh37
NC_000016.8:g.13949139A>C	NCBI36
NG_011442.1:g.32625A>C , LRG_463:g.32625A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2185A>C MANE Select	NP_005227.1:p.Ile729Leu
ENST00000311895.8:c.2185A>C MANE Select	ENSP00000310520.7:p.Ile729Leu
NM_005236.2:c.2185A>C , LRG_463t1:c.2185A>C	NP_005227.1:p.Ile729Leu
ENST00000311895.7:c.2185A>C	ENSP00000310520.7:p.Ile729Leu
ENST00000389138.7:n.1462A>C
ENST00000462862.1:c.498A>C	ENSP00000461322.1:n.498A>C
ENST00000682617.1:c.2323A>C	ENSP00000507912.1:p.Ile775Leu
ENST00000683962.1:c.*1879A>C	ENSP00000506854.1:n.*1879A>C
XM_011522424.1:c.2323A>C	XP_011520726.1:p.Ile775Leu
XM_011522424.3:c.2323A>C	XP_011520726.1:p.Ile775Leu
XM_011522425.1:c.1642A>C	XP_011520727.1:p.Ile548Leu
XM_011522426.1:c.1396A>C	XP_011520728.1:p.Ile466Leu
XM_011522427.1:c.835A>C	XP_011520729.1:p.Ile279Leu
XM_017023043.2:c.1396A>C	XP_016878532.1:p.Ile466Leu
XR_932805.1:n.2344A>C