Canonical Allele Identifier: CA2209082714
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947789T= , CM000678.2:g.13947789T= GRCh38
NC_000016.9:g.14041646T= , CM000678.1:g.14041646T= GRCh37
NC_000016.8:g.13949147T= NCBI36
NG_011442.1:g.32633T= , LRG_463:g.32633T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2331T= ENSP00000507912.1:p.Asp777=
ENST00000683962.1:c.*1887T= ENSP00000506854.1:n.*1887T=
ENST00000311895.8:c.2193T= MANE Select ENSP00000310520.7:p.Asp731=
ENST00000311895.7:c.2193T= ENSP00000310520.7:p.Asp731=
ENST00000389138.7:n.1470T=
ENST00000462862.1:c.506T= ENSP00000461322.1:n.506T=
NM_005236.2:c.2193T= , LRG_463t1:c.2193T= NP_005227.1:p.Asp731=
XM_011522424.1:c.2331T= XP_011520726.1:p.Asp777=
XM_011522425.1:c.1650T= XP_011520727.1:p.Asp550=
XM_011522426.1:c.1404T= XP_011520728.1:p.Asp468=
XM_011522427.1:c.843T= XP_011520729.1:p.Asp281=
XR_932805.1:n.2352T=
XM_011522424.3:c.2331T= XP_011520726.1:p.Asp777=
XM_017023043.2:c.1404T= XP_016878532.1:p.Asp468=
NM_005236.3:c.2193T= MANE Select NP_005227.1:p.Asp731=