Canonical Allele Identifier: CA2209081546
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2032489126

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13945024G>T , CM000678.2:g.13945024G>T GRCh38
NC_000016.9:g.14038881G>T , CM000678.1:g.14038881G>T GRCh37
NC_000016.8:g.13946382G>T NCBI36
NG_011442.1:g.29868G>T , LRG_463:g.29868G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2155+189G>T ENSP00000507912.1:n.2155+189G>T
ENST00000683962.1:c.*1711+189G>T ENSP00000506854.1:n.*1711+189G>T
ENST00000311895.8:c.2017+189G>T MANE Select ENSP00000310520.7:n.2017+189G>T
ENST00000311895.7:c.2017+189G>T ENSP00000310520.7:n.2017+189G>T
ENST00000389138.7:n.1294+189G>T
ENST00000462862.1:c.330+189G>T ENSP00000461322.1:n.330+189G>T
NM_005236.2:c.2017+189G>T , LRG_463t1:c.2017+189G>T NP_005227.1:n.2017+189G>T
XM_011522424.1:c.2155+189G>T XP_011520726.1:n.2155+189G>T
XM_011522425.1:c.1474+189G>T XP_011520727.1:n.1474+189G>T
XM_011522426.1:c.1228+189G>T XP_011520728.1:n.1228+189G>T
XM_011522427.1:c.667+189G>T XP_011520729.1:n.667+189G>T
XR_932805.1:n.2176+189G>T
XM_011522424.3:c.2155+189G>T XP_011520726.1:n.2155+189G>T
XM_017023043.2:c.1228+189G>T XP_016878532.1:n.1228+189G>T
NM_005236.3:c.2017+189G>T MANE Select NP_005227.1:n.2017+189G>T