Canonical Allele Identifier: CA3222147628
Community Standard Title: NM_005236.3(ERCC4):c.2529G= (p.Lys843=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948125G= , CM000678.2:g.13948125G= GRCh38
NC_000016.9:g.14041982G= , CM000678.1:g.14041982G= GRCh37
NC_000016.8:g.13949483G= NCBI36
NG_011442.1:g.32969G= , LRG_463:g.32969G=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2529G= MANE Select NP_005227.1:p.Lys843=
ENST00000311895.8:c.2529G= MANE Select ENSP00000310520.7:p.Lys843=
NM_005236.2:c.2529G= , LRG_463t1:c.2529G= NP_005227.1:p.Lys843=
ENST00000311895.7:c.2529G= ENSP00000310520.7:p.Lys843=
ENST00000389138.7:n.1806G=
ENST00000682617.1:c.2667G= ENSP00000507912.1:p.Lys889=
ENST00000683962.1:c.*2223G= ENSP00000506854.1:n.*2223G=
XM_011522424.1:c.2667G= XP_011520726.1:p.Lys889=
XM_011522424.3:c.2667G= XP_011520726.1:p.Lys889=
XM_011522425.1:c.1986G= XP_011520727.1:p.Lys662=
XM_011522426.1:c.1740G= XP_011520728.1:p.Lys580=
XM_011522427.1:c.1179G= XP_011520729.1:p.Lys393=
XM_017023043.2:c.1740G= XP_016878532.1:p.Lys580=
XR_932805.1:n.2688G=