Canonical Allele Identifier: CA394803121
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13928209A>G , CM000678.2:g.13928209A>G GRCh38
NC_000016.9:g.14022066A>G , CM000678.1:g.14022066A>G GRCh37
NC_000016.8:g.13929567A>G NCBI36
NG_011442.1:g.13053A>G , LRG_463:g.13053A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682552.1:n.754A>G
ENST00000682568.1:n.696A>G
ENST00000682617.1:c.904A>G ENSP00000507912.1:p.Asn302Asp
ENST00000682826.1:c.766A>G ENSP00000507274.1:p.Asn256Asp
ENST00000682909.1:n.2806A>G
ENST00000683277.1:n.2411A>G
ENST00000683407.1:n.774A>G
ENST00000683962.1:c.*460A>G ENSP00000506854.1:n.*460A>G
ENST00000311895.8:c.766A>G MANE Select ENSP00000310520.7:p.Asn256Asp
ENST00000311895.7:c.766A>G ENSP00000310520.7:p.Asn256Asp
ENST00000574194.1:c.293A>G
ENST00000574781.1:n.443A>G
ENST00000575156.5:c.766A>G ENSP00000459933.1:p.Asn256Asp
NM_005236.2:c.766A>G , LRG_463t1:c.766A>G NP_005227.1:p.Asn256Asp
XM_011522424.1:c.904A>G XP_011520726.1:p.Asn302Asp
XM_011522425.1:c.223A>G XP_011520727.1:p.Asn75Asp
XR_932805.1:n.925A>G
XM_011522424.3:c.904A>G XP_011520726.1:p.Asn302Asp
XM_017023043.2:c.-172A>G XP_016878532.1:n.-172A>G
NM_005236.3:c.766A>G MANE Select NP_005227.1:p.Asn256Asp