Canonical Allele Identifier: CA493444478
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948230C>T , CM000678.2:g.13948230C>T GRCh38
NC_000016.9:g.14042087C>T , CM000678.1:g.14042087C>T GRCh37
NC_000016.8:g.13949588C>T NCBI36
NG_011442.1:g.33074C>T , LRG_463:g.33074C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2772C>T ENSP00000507912.1:p.Ala924=
ENST00000683962.1:c.*2328C>T ENSP00000506854.1:n.*2328C>T
ENST00000311895.8:c.2634C>T MANE Select ENSP00000310520.7:p.Ala878=
ENST00000311895.7:c.2634C>T ENSP00000310520.7:p.Ala878=
ENST00000389138.7:n.1911C>T
NM_005236.2:c.2634C>T , LRG_463t1:c.2634C>T NP_005227.1:p.Ala878=
XM_011522424.1:c.2772C>T XP_011520726.1:p.Ala924=
XM_011522425.1:c.2091C>T XP_011520727.1:p.Ala697=
XM_011522426.1:c.1845C>T XP_011520728.1:p.Ala615=
XM_011522427.1:c.1284C>T XP_011520729.1:p.Ala428=
XR_932805.1:n.2793C>T
XM_011522424.3:c.2772C>T XP_011520726.1:p.Ala924=
XM_017023043.2:c.1845C>T XP_016878532.1:p.Ala615=
NM_005236.3:c.2634C>T MANE Select NP_005227.1:p.Ala878=