Canonical Allele Identifier: CA394823212

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041819C>A (hg19) ; chr16:g.13947962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947962C>A , CM000678.2:g.13947962C>A	GRCh38
NC_000016.9:g.14041819C>A , CM000678.1:g.14041819C>A	GRCh37
NC_000016.8:g.13949320C>A	NCBI36
NG_011442.1:g.32806C>A , LRG_463:g.32806C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2504C>A	ENSP00000507912.1:p.Thr835Asn
ENST00000683962.1:c.*2060C>A	ENSP00000506854.1:n.*2060C>A
ENST00000311895.8:c.2366C>A MANE Select	ENSP00000310520.7:p.Thr789Asn
ENST00000311895.7:c.2366C>A	ENSP00000310520.7:p.Thr789Asn
ENST00000389138.7:n.1643C>A
ENST00000462862.1:c.679C>A	ENSP00000461322.1:n.679C>A
NM_005236.2:c.2366C>A , LRG_463t1:c.2366C>A	NP_005227.1:p.Thr789Asn
XM_011522424.1:c.2504C>A	XP_011520726.1:p.Thr835Asn
XM_011522425.1:c.1823C>A	XP_011520727.1:p.Thr608Asn
XM_011522426.1:c.1577C>A	XP_011520728.1:p.Thr526Asn
XM_011522427.1:c.1016C>A	XP_011520729.1:p.Thr339Asn
XR_932805.1:n.2525C>A
XM_011522424.3:c.2504C>A	XP_011520726.1:p.Thr835Asn
XM_017023043.2:c.1577C>A	XP_016878532.1:p.Thr526Asn
NM_005236.3:c.2366C>A MANE Select	NP_005227.1:p.Thr789Asn