Canonical Allele Identifier: CA152756
Gene: ERCC4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 129007
dbSNP Id: rs1799801

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948101T>C , CM000678.2:g.13948101T>C GRCh38
NC_000016.9:g.14041958T>C , CM000678.1:g.14041958T>C GRCh37
NC_000016.8:g.13949459T>C NCBI36
NG_011442.1:g.32945T>C , LRG_463:g.32945T>C

Transcript Alleles

HGVS Amino-acid change
NM_005236.2:c.2505T>C , LRG_463t1:c.2505T>C NP_005227.1:p.Ser835=
XM_011522424.1:c.2643T>C XP_011520726.1:p.Ser881=
XM_011522425.1:c.1962T>C XP_011520727.1:p.Ser654=
XM_011522426.1:c.1716T>C XP_011520728.1:p.Ser572=
XM_011522427.1:c.1155T>C XP_011520729.1:p.Ser385=
XR_932805.1:n.2664T>C
XM_011522424.3:c.2643T>C
XM_017023043.2:c.1716T>C XP_016878532.1:p.Ser572=
ENST00000311895.7:c.2505T>C ENSP00000310520.7:p.Ser835=
ENST00000389138.7:n.1782T>C