Canonical Allele Identifier: CA3217906092
Community Standard Title: NM_005236.3(ERCC4):c.2243T= (p.Met748=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947839T= , CM000678.2:g.13947839T= GRCh38
NC_000016.9:g.14041696T= , CM000678.1:g.14041696T= GRCh37
NC_000016.8:g.13949197T= NCBI36
NG_011442.1:g.32683T= , LRG_463:g.32683T=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2243T= MANE Select NP_005227.1:p.Met748=
ENST00000311895.8:c.2243T= MANE Select ENSP00000310520.7:p.Met748=
NM_005236.2:c.2243T= , LRG_463t1:c.2243T= NP_005227.1:p.Met748=
ENST00000311895.7:c.2243T= ENSP00000310520.7:p.Met748=
ENST00000389138.7:n.1520T=
ENST00000462862.1:c.556T= ENSP00000461322.1:n.556T=
ENST00000682617.1:c.2381T= ENSP00000507912.1:p.Met794=
ENST00000683962.1:c.*1937T= ENSP00000506854.1:n.*1937T=
XM_011522424.1:c.2381T= XP_011520726.1:p.Met794=
XM_011522424.3:c.2381T= XP_011520726.1:p.Met794=
XM_011522425.1:c.1700T= XP_011520727.1:p.Met567=
XM_011522426.1:c.1454T= XP_011520728.1:p.Met485=
XM_011522427.1:c.893T= XP_011520729.1:p.Met298=
XM_017023043.2:c.1454T= XP_016878532.1:p.Met485=
XR_932805.1:n.2402T=