Canonical Allele Identifier: CA3218936285
Community Standard Title: NM_005236.3(ERCC4):c.2411C= (p.Pro804=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948007C= , CM000678.2:g.13948007C= GRCh38
NC_000016.9:g.14041864C= , CM000678.1:g.14041864C= GRCh37
NC_000016.8:g.13949365C= NCBI36
NG_011442.1:g.32851C= , LRG_463:g.32851C=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2411C= MANE Select NP_005227.1:p.Pro804=
ENST00000311895.8:c.2411C= MANE Select ENSP00000310520.7:p.Pro804=
NM_005236.2:c.2411C= , LRG_463t1:c.2411C= NP_005227.1:p.Pro804=
ENST00000311895.7:c.2411C= ENSP00000310520.7:p.Pro804=
ENST00000389138.7:n.1688C=
ENST00000682617.1:c.2549C= ENSP00000507912.1:p.Pro850=
ENST00000683962.1:c.*2105C= ENSP00000506854.1:n.*2105C=
XM_011522424.1:c.2549C= XP_011520726.1:p.Pro850=
XM_011522424.3:c.2549C= XP_011520726.1:p.Pro850=
XM_011522425.1:c.1868C= XP_011520727.1:p.Pro623=
XM_011522426.1:c.1622C= XP_011520728.1:p.Pro541=
XM_011522427.1:c.1061C= XP_011520729.1:p.Pro354=
XM_017023043.2:c.1622C= XP_016878532.1:p.Pro541=
XR_932805.1:n.2570C=