Canonical Allele Identifier: CA394824190

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041959G>C (hg19) ; chr16:g.13948102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948102G>C , CM000678.2:g.13948102G>C	GRCh38
NC_000016.9:g.14041959G>C , CM000678.1:g.14041959G>C	GRCh37
NC_000016.8:g.13949460G>C	NCBI36
NG_011442.1:g.32946G>C , LRG_463:g.32946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2644G>C	ENSP00000507912.1:p.Glu882Gln
ENST00000683962.1:c.*2200G>C	ENSP00000506854.1:n.*2200G>C
ENST00000311895.8:c.2506G>C MANE Select	ENSP00000310520.7:p.Glu836Gln
ENST00000311895.7:c.2506G>C	ENSP00000310520.7:p.Glu836Gln
ENST00000389138.7:n.1783G>C
NM_005236.2:c.2506G>C , LRG_463t1:c.2506G>C	NP_005227.1:p.Glu836Gln
XM_011522424.1:c.2644G>C	XP_011520726.1:p.Glu882Gln
XM_011522425.1:c.1963G>C	XP_011520727.1:p.Glu655Gln
XM_011522426.1:c.1717G>C	XP_011520728.1:p.Glu573Gln
XM_011522427.1:c.1156G>C	XP_011520729.1:p.Glu386Gln
XR_932805.1:n.2665G>C
XM_011522424.3:c.2644G>C	XP_011520726.1:p.Glu882Gln
XM_017023043.2:c.1717G>C	XP_016878532.1:p.Glu573Gln
NM_005236.3:c.2506G>C MANE Select	NP_005227.1:p.Glu836Gln