Canonical Allele Identifier: CA7910733
Community Standard Title: NM_005236.3(ERCC4):c.2409C>T (p.Cys803=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948005C>T , CM000678.2:g.13948005C>T GRCh38
NC_000016.9:g.14041862C>T , CM000678.1:g.14041862C>T GRCh37
NC_000016.8:g.13949363C>T NCBI36
NG_011442.1:g.32849C>T , LRG_463:g.32849C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2409C>T MANE Select NP_005227.1:p.Cys803=
ENST00000311895.8:c.2409C>T MANE Select ENSP00000310520.7:p.Cys803=
NM_005236.2:c.2409C>T , LRG_463t1:c.2409C>T NP_005227.1:p.Cys803=
ENST00000311895.7:c.2409C>T ENSP00000310520.7:p.Cys803=
ENST00000389138.7:n.1686C>T
ENST00000682617.1:c.2547C>T ENSP00000507912.1:p.Cys849=
ENST00000683962.1:c.*2103C>T ENSP00000506854.1:n.*2103C>T
XM_011522424.1:c.2547C>T XP_011520726.1:p.Cys849=
XM_011522424.3:c.2547C>T XP_011520726.1:p.Cys849=
XM_011522425.1:c.1866C>T XP_011520727.1:p.Cys622=
XM_011522426.1:c.1620C>T XP_011520728.1:p.Cys540=
XM_011522427.1:c.1059C>T XP_011520729.1:p.Cys353=
XM_017023043.2:c.1620C>T XP_016878532.1:p.Cys540=
XR_932805.1:n.2568C>T