Canonical Allele Identifier: CA394812559

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029530T>A (hg19) ; chr16:g.13935673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935673T>A , CM000678.2:g.13935673T>A	GRCh38
NC_000016.9:g.14029530T>A , CM000678.1:g.14029530T>A	GRCh37
NC_000016.8:g.13937031T>A	NCBI36
NG_011442.1:g.20517T>A , LRG_463:g.20517T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1819T>A
ENST00000682617.1:c.1879T>A	ENSP00000507912.1:p.Tyr627Asn
ENST00000682826.1:c.*1055T>A	ENSP00000507274.1:n.*1055T>A
ENST00000682909.1:n.3781T>A
ENST00000683277.1:n.3386T>A
ENST00000683407.1:n.1749T>A
ENST00000683962.1:c.*1435T>A	ENSP00000506854.1:n.*1435T>A
ENST00000311895.8:c.1741T>A MANE Select	ENSP00000310520.7:p.Tyr581Asn
ENST00000311895.7:c.1741T>A	ENSP00000310520.7:p.Tyr581Asn
ENST00000389138.7:n.1018T>A
NM_005236.2:c.1741T>A , LRG_463t1:c.1741T>A	NP_005227.1:p.Tyr581Asn
XM_011522424.1:c.1879T>A	XP_011520726.1:p.Tyr627Asn
XM_011522425.1:c.1198T>A	XP_011520727.1:p.Tyr400Asn
XM_011522426.1:c.952T>A	XP_011520728.1:p.Tyr318Asn
XM_011522427.1:c.391T>A	XP_011520729.1:p.Tyr131Asn
XR_932805.1:n.1900T>A
XM_011522424.3:c.1879T>A	XP_011520726.1:p.Tyr627Asn
XM_017023043.2:c.952T>A	XP_016878532.1:p.Tyr318Asn
NM_005236.3:c.1741T>A MANE Select	NP_005227.1:p.Tyr581Asn