Canonical Allele Identifier: CA394822725
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947856C>A , CM000678.2:g.13947856C>A GRCh38
NC_000016.9:g.14041713C>A , CM000678.1:g.14041713C>A GRCh37
NC_000016.8:g.13949214C>A NCBI36
NG_011442.1:g.32700C>A , LRG_463:g.32700C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2398C>A ENSP00000507912.1:p.Arg800Ser
ENST00000683962.1:c.*1954C>A ENSP00000506854.1:n.*1954C>A
ENST00000311895.8:c.2260C>A MANE Select ENSP00000310520.7:p.Arg754Ser
ENST00000311895.7:c.2260C>A ENSP00000310520.7:p.Arg754Ser
ENST00000389138.7:n.1537C>A
ENST00000462862.1:c.573C>A ENSP00000461322.1:n.573C>A
NM_005236.2:c.2260C>A , LRG_463t1:c.2260C>A NP_005227.1:p.Arg754Ser
XM_011522424.1:c.2398C>A XP_011520726.1:p.Arg800Ser
XM_011522425.1:c.1717C>A XP_011520727.1:p.Arg573Ser
XM_011522426.1:c.1471C>A XP_011520728.1:p.Arg491Ser
XM_011522427.1:c.910C>A XP_011520729.1:p.Arg304Ser
XR_932805.1:n.2419C>A
XM_011522424.3:c.2398C>A XP_011520726.1:p.Arg800Ser
XM_017023043.2:c.1471C>A XP_016878532.1:p.Arg491Ser
NM_005236.3:c.2260C>A MANE Select NP_005227.1:p.Arg754Ser