Canonical Allele Identifier: CA3222147428
Community Standard Title: NM_005236.3(ERCC4):c.2470G= (p.Asp824=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948066G= , CM000678.2:g.13948066G= GRCh38
NC_000016.9:g.14041923G= , CM000678.1:g.14041923G= GRCh37
NC_000016.8:g.13949424G= NCBI36
NG_011442.1:g.32910G= , LRG_463:g.32910G=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2470G= MANE Select NP_005227.1:p.Asp824=
ENST00000311895.8:c.2470G= MANE Select ENSP00000310520.7:p.Asp824=
NM_005236.2:c.2470G= , LRG_463t1:c.2470G= NP_005227.1:p.Asp824=
ENST00000311895.7:c.2470G= ENSP00000310520.7:p.Asp824=
ENST00000389138.7:n.1747G=
ENST00000682617.1:c.2608G= ENSP00000507912.1:p.Asp870=
ENST00000683962.1:c.*2164G= ENSP00000506854.1:n.*2164G=
XM_011522424.1:c.2608G= XP_011520726.1:p.Asp870=
XM_011522424.3:c.2608G= XP_011520726.1:p.Asp870=
XM_011522425.1:c.1927G= XP_011520727.1:p.Asp643=
XM_011522426.1:c.1681G= XP_011520728.1:p.Asp561=
XM_011522427.1:c.1120G= XP_011520729.1:p.Asp374=
XM_017023043.2:c.1681G= XP_016878532.1:p.Asp561=
XR_932805.1:n.2629G=