Canonical Allele Identifier: CA3222146532
Community Standard Title: NM_005236.3(ERCC4):c.2050A= (p.Ile684=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947646A= , CM000678.2:g.13947646A= GRCh38
NC_000016.9:g.14041503A= , CM000678.1:g.14041503A= GRCh37
NC_000016.8:g.13949004A= NCBI36
NG_011442.1:g.32490A= , LRG_463:g.32490A=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2050A= MANE Select NP_005227.1:p.Ile684=
ENST00000311895.8:c.2050A= MANE Select ENSP00000310520.7:p.Ile684=
NM_005236.2:c.2050A= , LRG_463t1:c.2050A= NP_005227.1:p.Ile684=
ENST00000311895.7:c.2050A= ENSP00000310520.7:p.Ile684=
ENST00000389138.7:n.1327A=
ENST00000462862.1:c.363A= ENSP00000461322.1:n.363A=
ENST00000682617.1:c.2188A= ENSP00000507912.1:p.Ile730=
ENST00000683962.1:c.*1744A= ENSP00000506854.1:n.*1744A=
XM_011522424.1:c.2188A= XP_011520726.1:p.Ile730=
XM_011522424.3:c.2188A= XP_011520726.1:p.Ile730=
XM_011522425.1:c.1507A= XP_011520727.1:p.Ile503=
XM_011522426.1:c.1261A= XP_011520728.1:p.Ile421=
XM_011522427.1:c.700A= XP_011520729.1:p.Ile234=
XM_017023043.2:c.1261A= XP_016878532.1:p.Ile421=
XR_932805.1:n.2209A=