Canonical Allele Identifier: CA394824343
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948126T>G , CM000678.2:g.13948126T>G GRCh38
NC_000016.9:g.14041983T>G , CM000678.1:g.14041983T>G GRCh37
NC_000016.8:g.13949484T>G NCBI36
NG_011442.1:g.32970T>G , LRG_463:g.32970T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2668T>G ENSP00000507912.1:p.Tyr890Asp
ENST00000683962.1:c.*2224T>G ENSP00000506854.1:n.*2224T>G
ENST00000311895.8:c.2530T>G MANE Select ENSP00000310520.7:p.Tyr844Asp
ENST00000311895.7:c.2530T>G ENSP00000310520.7:p.Tyr844Asp
ENST00000389138.7:n.1807T>G
NM_005236.2:c.2530T>G , LRG_463t1:c.2530T>G NP_005227.1:p.Tyr844Asp
XM_011522424.1:c.2668T>G XP_011520726.1:p.Tyr890Asp
XM_011522425.1:c.1987T>G XP_011520727.1:p.Tyr663Asp
XM_011522426.1:c.1741T>G XP_011520728.1:p.Tyr581Asp
XM_011522427.1:c.1180T>G XP_011520729.1:p.Tyr394Asp
XR_932805.1:n.2689T>G
XM_011522424.3:c.2668T>G XP_011520726.1:p.Tyr890Asp
XM_017023043.2:c.1741T>G XP_016878532.1:p.Tyr581Asp
NM_005236.3:c.2530T>G MANE Select NP_005227.1:p.Tyr844Asp