Canonical Allele Identifier: CA3218936168
Community Standard Title: NM_005236.3(ERCC4):c.2382C= (p.His794=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947978C= , CM000678.2:g.13947978C= GRCh38
NC_000016.9:g.14041835C= , CM000678.1:g.14041835C= GRCh37
NC_000016.8:g.13949336C= NCBI36
NG_011442.1:g.32822C= , LRG_463:g.32822C=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2382C= MANE Select NP_005227.1:p.His794=
ENST00000311895.8:c.2382C= MANE Select ENSP00000310520.7:p.His794=
NM_005236.2:c.2382C= , LRG_463t1:c.2382C= NP_005227.1:p.His794=
ENST00000311895.7:c.2382C= ENSP00000310520.7:p.His794=
ENST00000389138.7:n.1659C=
ENST00000462862.1:c.695C= ENSP00000461322.1:n.695C=
ENST00000682617.1:c.2520C= ENSP00000507912.1:p.His840=
ENST00000683962.1:c.*2076C= ENSP00000506854.1:n.*2076C=
XM_011522424.1:c.2520C= XP_011520726.1:p.His840=
XM_011522424.3:c.2520C= XP_011520726.1:p.His840=
XM_011522425.1:c.1839C= XP_011520727.1:p.His613=
XM_011522426.1:c.1593C= XP_011520728.1:p.His531=
XM_011522427.1:c.1032C= XP_011520729.1:p.His344=
XM_017023043.2:c.1593C= XP_016878532.1:p.His531=
XR_932805.1:n.2541C=