Canonical Allele Identifier: CA394822903
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947895T>A , CM000678.2:g.13947895T>A GRCh38
NC_000016.9:g.14041752T>A , CM000678.1:g.14041752T>A GRCh37
NC_000016.8:g.13949253T>A NCBI36
NG_011442.1:g.32739T>A , LRG_463:g.32739T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2437T>A ENSP00000507912.1:p.Phe813Ile
ENST00000683962.1:c.*1993T>A ENSP00000506854.1:n.*1993T>A
ENST00000311895.8:c.2299T>A MANE Select ENSP00000310520.7:p.Phe767Ile
ENST00000311895.7:c.2299T>A ENSP00000310520.7:p.Phe767Ile
ENST00000389138.7:n.1576T>A
ENST00000462862.1:c.612T>A ENSP00000461322.1:n.612T>A
NM_005236.2:c.2299T>A , LRG_463t1:c.2299T>A NP_005227.1:p.Phe767Ile
XM_011522424.1:c.2437T>A XP_011520726.1:p.Phe813Ile
XM_011522425.1:c.1756T>A XP_011520727.1:p.Phe586Ile
XM_011522426.1:c.1510T>A XP_011520728.1:p.Phe504Ile
XM_011522427.1:c.949T>A XP_011520729.1:p.Phe317Ile
XR_932805.1:n.2458T>A
XM_011522424.3:c.2437T>A XP_011520726.1:p.Phe813Ile
XM_017023043.2:c.1510T>A XP_016878532.1:p.Phe504Ile
NM_005236.3:c.2299T>A MANE Select NP_005227.1:p.Phe767Ile