Canonical Allele Identifier: CA394822486
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2141620150

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947800C>A , CM000678.2:g.13947800C>A GRCh38
NC_000016.9:g.14041657C>A , CM000678.1:g.14041657C>A GRCh37
NC_000016.8:g.13949158C>A NCBI36
NG_011442.1:g.32644C>A , LRG_463:g.32644C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2342C>A ENSP00000507912.1:p.Ser781Tyr
ENST00000683962.1:c.*1898C>A ENSP00000506854.1:n.*1898C>A
ENST00000311895.8:c.2204C>A MANE Select ENSP00000310520.7:p.Ser735Tyr
ENST00000311895.7:c.2204C>A ENSP00000310520.7:p.Ser735Tyr
ENST00000389138.7:n.1481C>A
ENST00000462862.1:c.517C>A ENSP00000461322.1:n.517C>A
NM_005236.2:c.2204C>A , LRG_463t1:c.2204C>A NP_005227.1:p.Ser735Tyr
XM_011522424.1:c.2342C>A XP_011520726.1:p.Ser781Tyr
XM_011522425.1:c.1661C>A XP_011520727.1:p.Ser554Tyr
XM_011522426.1:c.1415C>A XP_011520728.1:p.Ser472Tyr
XM_011522427.1:c.854C>A XP_011520729.1:p.Ser285Tyr
XR_932805.1:n.2363C>A
XM_011522424.3:c.2342C>A XP_011520726.1:p.Ser781Tyr
XM_017023043.2:c.1415C>A XP_016878532.1:p.Ser472Tyr
NM_005236.3:c.2204C>A MANE Select NP_005227.1:p.Ser735Tyr