Canonical Allele Identifier: CA278485583
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs968717590

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947992G>A , CM000678.2:g.13947992G>A GRCh38
NC_000016.9:g.14041849G>A , CM000678.1:g.14041849G>A GRCh37
NC_000016.8:g.13949350G>A NCBI36
NG_011442.1:g.32836G>A , LRG_463:g.32836G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2534G>A ENSP00000507912.1:p.Arg845Gln
ENST00000683962.1:c.*2090G>A ENSP00000506854.1:n.*2090G>A
ENST00000311895.8:c.2396G>A MANE Select ENSP00000310520.7:p.Arg799Gln
ENST00000311895.7:c.2396G>A ENSP00000310520.7:p.Arg799Gln
ENST00000389138.7:n.1673G>A
ENST00000462862.1:c.709G>A ENSP00000461322.1:n.709G>A
NM_005236.2:c.2396G>A , LRG_463t1:c.2396G>A NP_005227.1:p.Arg799Gln
XM_011522424.1:c.2534G>A XP_011520726.1:p.Arg845Gln
XM_011522425.1:c.1853G>A XP_011520727.1:p.Arg618Gln
XM_011522426.1:c.1607G>A XP_011520728.1:p.Arg536Gln
XM_011522427.1:c.1046G>A XP_011520729.1:p.Arg349Gln
XR_932805.1:n.2555G>A
XM_011522424.3:c.2534G>A XP_011520726.1:p.Arg845Gln
XM_017023043.2:c.1607G>A XP_016878532.1:p.Arg536Gln
NM_005236.3:c.2396G>A MANE Select NP_005227.1:p.Arg799Gln