Canonical Allele Identifier: CA7910622
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs760177195

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944766G>T , CM000678.2:g.13944766G>T GRCh38
NC_000016.9:g.14038623G>T , CM000678.1:g.14038623G>T GRCh37
NC_000016.8:g.13946124G>T NCBI36
NG_011442.1:g.29610G>T , LRG_463:g.29610G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2086G>T ENSP00000507912.1:p.Asp696Tyr
ENST00000683962.1:c.*1642G>T ENSP00000506854.1:n.*1642G>T
ENST00000311895.8:c.1948G>T MANE Select ENSP00000310520.7:p.Asp650Tyr
ENST00000311895.7:c.1948G>T ENSP00000310520.7:p.Asp650Tyr
ENST00000389138.7:n.1225G>T
ENST00000462862.1:c.261G>T ENSP00000461322.1:n.261G>T
NM_005236.2:c.1948G>T , LRG_463t1:c.1948G>T NP_005227.1:p.Asp650Tyr
XM_011522424.1:c.2086G>T XP_011520726.1:p.Asp696Tyr
XM_011522425.1:c.1405G>T XP_011520727.1:p.Asp469Tyr
XM_011522426.1:c.1159G>T XP_011520728.1:p.Asp387Tyr
XM_011522427.1:c.598G>T XP_011520729.1:p.Asp200Tyr
XR_932805.1:n.2107G>T
XM_011522424.3:c.2086G>T XP_011520726.1:p.Asp696Tyr
XM_017023043.2:c.1159G>T XP_016878532.1:p.Asp387Tyr
NM_005236.3:c.1948G>T MANE Select NP_005227.1:p.Asp650Tyr