Canonical Allele Identifier: CA493690045

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041856C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947999C>A , CM000678.2:g.13947999C>A	GRCh38
NC_000016.9:g.14041856C>A , CM000678.1:g.14041856C>A	GRCh37
NC_000016.8:g.13949357C>A	NCBI36
NG_011442.1:g.32843C>A , LRG_463:g.32843C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2541C>A	ENSP00000507912.1:p.Leu847=
ENST00000683962.1:c.*2097C>A	ENSP00000506854.1:n.*2097C>A
ENST00000311895.8:c.2403C>A MANE Select	ENSP00000310520.7:p.Leu801=
ENST00000311895.7:c.2403C>A	ENSP00000310520.7:p.Leu801=
ENST00000389138.7:n.1680C>A
ENST00000462862.1:c.716C>A	ENSP00000461322.1:n.716C>A
NM_005236.2:c.2403C>A , LRG_463t1:c.2403C>A	NP_005227.1:p.Leu801=
XM_011522424.1:c.2541C>A	XP_011520726.1:p.Leu847=
XM_011522425.1:c.1860C>A	XP_011520727.1:p.Leu620=
XM_011522426.1:c.1614C>A	XP_011520728.1:p.Leu538=
XM_011522427.1:c.1053C>A	XP_011520729.1:p.Leu351=
XR_932805.1:n.2562C>A
XM_011522424.3:c.2541C>A	XP_011520726.1:p.Leu847=
XM_017023043.2:c.1614C>A	XP_016878532.1:p.Leu538=
NM_005236.3:c.2403C>A MANE Select	NP_005227.1:p.Leu801=