Canonical Allele Identifier: CA394822356
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947776A>T , CM000678.2:g.13947776A>T GRCh38
NC_000016.9:g.14041633A>T , CM000678.1:g.14041633A>T GRCh37
NC_000016.8:g.13949134A>T NCBI36
NG_011442.1:g.32620A>T , LRG_463:g.32620A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2318A>T ENSP00000507912.1:p.Lys773Met
ENST00000683962.1:c.*1874A>T ENSP00000506854.1:n.*1874A>T
ENST00000311895.8:c.2180A>T MANE Select ENSP00000310520.7:p.Lys727Met
ENST00000311895.7:c.2180A>T ENSP00000310520.7:p.Lys727Met
ENST00000389138.7:n.1457A>T
ENST00000462862.1:c.493A>T ENSP00000461322.1:n.493A>T
NM_005236.2:c.2180A>T , LRG_463t1:c.2180A>T NP_005227.1:p.Lys727Met
XM_011522424.1:c.2318A>T XP_011520726.1:p.Lys773Met
XM_011522425.1:c.1637A>T XP_011520727.1:p.Lys546Met
XM_011522426.1:c.1391A>T XP_011520728.1:p.Lys464Met
XM_011522427.1:c.830A>T XP_011520729.1:p.Lys277Met
XR_932805.1:n.2339A>T
XM_011522424.3:c.2318A>T XP_011520726.1:p.Lys773Met
XM_017023043.2:c.1391A>T XP_016878532.1:p.Lys464Met
NM_005236.3:c.2180A>T MANE Select NP_005227.1:p.Lys727Met