Canonical Allele Identifier: CA3218935863
Community Standard Title: NM_005236.3(ERCC4):c.2171T= (p.Val724=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947767T= , CM000678.2:g.13947767T= GRCh38
NC_000016.9:g.14041624T= , CM000678.1:g.14041624T= GRCh37
NC_000016.8:g.13949125T= NCBI36
NG_011442.1:g.32611T= , LRG_463:g.32611T=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2171T= MANE Select NP_005227.1:p.Val724=
ENST00000311895.8:c.2171T= MANE Select ENSP00000310520.7:p.Val724=
NM_005236.2:c.2171T= , LRG_463t1:c.2171T= NP_005227.1:p.Val724=
ENST00000311895.7:c.2171T= ENSP00000310520.7:p.Val724=
ENST00000389138.7:n.1448T=
ENST00000462862.1:c.484T= ENSP00000461322.1:n.484T=
ENST00000682617.1:c.2309T= ENSP00000507912.1:p.Val770=
ENST00000683962.1:c.*1865T= ENSP00000506854.1:n.*1865T=
XM_011522424.1:c.2309T= XP_011520726.1:p.Val770=
XM_011522424.3:c.2309T= XP_011520726.1:p.Val770=
XM_011522425.1:c.1628T= XP_011520727.1:p.Val543=
XM_011522426.1:c.1382T= XP_011520728.1:p.Val461=
XM_011522427.1:c.821T= XP_011520729.1:p.Val274=
XM_017023043.2:c.1382T= XP_016878532.1:p.Val461=
XR_932805.1:n.2330T=