Canonical Allele Identifier: CA394824230
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948109T>A , CM000678.2:g.13948109T>A GRCh38
NC_000016.9:g.14041966T>A , CM000678.1:g.14041966T>A GRCh37
NC_000016.8:g.13949467T>A NCBI36
NG_011442.1:g.32953T>A , LRG_463:g.32953T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2651T>A ENSP00000507912.1:p.Leu884His
ENST00000683962.1:c.*2207T>A ENSP00000506854.1:n.*2207T>A
ENST00000311895.8:c.2513T>A MANE Select ENSP00000310520.7:p.Leu838His
ENST00000311895.7:c.2513T>A ENSP00000310520.7:p.Leu838His
ENST00000389138.7:n.1790T>A
NM_005236.2:c.2513T>A , LRG_463t1:c.2513T>A NP_005227.1:p.Leu838His
XM_011522424.1:c.2651T>A XP_011520726.1:p.Leu884His
XM_011522425.1:c.1970T>A XP_011520727.1:p.Leu657His
XM_011522426.1:c.1724T>A XP_011520728.1:p.Leu575His
XM_011522427.1:c.1163T>A XP_011520729.1:p.Leu388His
XR_932805.1:n.2672T>A
XM_011522424.3:c.2651T>A XP_011520726.1:p.Leu884His
XM_017023043.2:c.1724T>A XP_016878532.1:p.Leu575His
NM_005236.3:c.2513T>A MANE Select NP_005227.1:p.Leu838His