Canonical Allele Identifier: CA394821820
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1179155154

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947707T>A , CM000678.2:g.13947707T>A GRCh38
NC_000016.9:g.14041564T>A , CM000678.1:g.14041564T>A GRCh37
NC_000016.8:g.13949065T>A NCBI36
NG_011442.1:g.32551T>A , LRG_463:g.32551T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2249T>A ENSP00000507912.1:p.Ile750Asn
ENST00000683962.1:c.*1805T>A ENSP00000506854.1:n.*1805T>A
ENST00000311895.8:c.2111T>A MANE Select ENSP00000310520.7:p.Ile704Asn
ENST00000311895.7:c.2111T>A ENSP00000310520.7:p.Ile704Asn
ENST00000389138.7:n.1388T>A
ENST00000462862.1:c.424T>A ENSP00000461322.1:n.424T>A
NM_005236.2:c.2111T>A , LRG_463t1:c.2111T>A NP_005227.1:p.Ile704Asn
XM_011522424.1:c.2249T>A XP_011520726.1:p.Ile750Asn
XM_011522425.1:c.1568T>A XP_011520727.1:p.Ile523Asn
XM_011522426.1:c.1322T>A XP_011520728.1:p.Ile441Asn
XM_011522427.1:c.761T>A XP_011520729.1:p.Ile254Asn
XR_932805.1:n.2270T>A
XM_011522424.3:c.2249T>A XP_011520726.1:p.Ile750Asn
XM_017023043.2:c.1322T>A XP_016878532.1:p.Ile441Asn
NM_005236.3:c.2111T>A MANE Select NP_005227.1:p.Ile704Asn