Canonical Allele Identifier: CA394825399
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948347A>G , CM000678.2:g.13948347A>G GRCh38
NC_000016.9:g.14042204A>G , CM000678.1:g.14042204A>G GRCh37
NC_000016.8:g.13949705A>G NCBI36
NG_011442.1:g.33191A>G , LRG_463:g.33191A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2889A>G ENSP00000507912.1:p.Ter963Trp
ENST00000683962.1:c.*2445A>G ENSP00000506854.1:n.*2445A>G
ENST00000311895.8:c.2751A>G MANE Select ENSP00000310520.7:p.Ter917Trp
ENST00000311895.7:c.2751A>G ENSP00000310520.7:p.Ter917Trp
ENST00000389138.7:n.2028A>G
NM_005236.2:c.2751A>G , LRG_463t1:c.2751A>G NP_005227.1:p.Ter917Trp
XM_011522424.1:c.2889A>G XP_011520726.1:p.Ter963Trp
XM_011522425.1:c.2208A>G XP_011520727.1:p.Ter736Trp
XM_011522426.1:c.1962A>G XP_011520728.1:p.Ter654Trp
XM_011522427.1:c.1401A>G XP_011520729.1:p.Ter467Trp
XR_932805.1:n.2910A>G
XM_011522424.3:c.2889A>G XP_011520726.1:p.Ter963Trp
XM_017023043.2:c.1962A>G XP_016878532.1:p.Ter654Trp
NM_005236.3:c.2751A>G MANE Select NP_005227.1:p.Ter917Trp