Canonical Allele Identifier: CA158864
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 134134
dbSNP Id: rs2020955

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944802T>C , CM000678.2:g.13944802T>C GRCh38
NC_000016.9:g.14038659T>C , CM000678.1:g.14038659T>C GRCh37
NC_000016.8:g.13946160T>C NCBI36
NG_011442.1:g.29646T>C , LRG_463:g.29646T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2122T>C ENSP00000507912.1:p.Ser708Pro
ENST00000683962.1:c.*1678T>C ENSP00000506854.1:n.*1678T>C
ENST00000311895.8:c.1984T>C MANE Select ENSP00000310520.7:p.Ser662Pro
ENST00000311895.7:c.1984T>C ENSP00000310520.7:p.Ser662Pro
ENST00000389138.7:n.1261T>C
ENST00000462862.1:c.297T>C ENSP00000461322.1:n.297T>C
NM_005236.2:c.1984T>C , LRG_463t1:c.1984T>C NP_005227.1:p.Ser662Pro
XM_011522424.1:c.2122T>C XP_011520726.1:p.Ser708Pro
XM_011522425.1:c.1441T>C XP_011520727.1:p.Ser481Pro
XM_011522426.1:c.1195T>C XP_011520728.1:p.Ser399Pro
XM_011522427.1:c.634T>C XP_011520729.1:p.Ser212Pro
XR_932805.1:n.2143T>C
XM_011522424.3:c.2122T>C XP_011520726.1:p.Ser708Pro
XM_017023043.2:c.1195T>C XP_016878532.1:p.Ser399Pro
NM_005236.3:c.1984T>C MANE Select NP_005227.1:p.Ser662Pro