Canonical Allele Identifier: CA10637052
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 317825
ClinVar RCV Id: RCV000388735
dbSNP Id: rs886051667

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948497T>C , CM000678.2:g.13948497T>C GRCh38
NC_000016.9:g.14042354T>C , CM000678.1:g.14042354T>C GRCh37
NC_000016.8:g.13949855T>C NCBI36
NG_011442.1:g.33341T>C , LRG_463:g.33341T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.*150T>C ENSP00000507912.1:n.*150T>C
ENST00000683962.1:c.*2595T>C ENSP00000506854.1:n.*2595T>C
ENST00000311895.8:c.*150T>C MANE Select ENSP00000310520.7:n.*150T>C
ENST00000311895.7:c.*150T>C ENSP00000310520.7:n.*150T>C
NM_005236.2:c.*150T>C , LRG_463t1:c.*150T>C NP_005227.1:n.*150T>C
XM_011522424.1:c.*150T>C XP_011520726.1:n.*150T>C
XM_011522425.1:c.*150T>C XP_011520727.1:n.*150T>C
XM_011522426.1:c.*150T>C XP_011520728.1:n.*150T>C
XM_011522427.1:c.*150T>C XP_011520729.1:n.*150T>C
XR_932805.1:n.3060T>C
XM_011522424.3:c.*150T>C XP_011520726.1:n.*150T>C
XM_017023043.2:c.*150T>C XP_016878532.1:n.*150T>C
NM_005236.3:c.*150T>C MANE Select NP_005227.1:n.*150T>C