Canonical Allele Identifier: CA394822898
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2032550384

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947893C>T , CM000678.2:g.13947893C>T GRCh38
NC_000016.9:g.14041750C>T , CM000678.1:g.14041750C>T GRCh37
NC_000016.8:g.13949251C>T NCBI36
NG_011442.1:g.32737C>T , LRG_463:g.32737C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2435C>T ENSP00000507912.1:p.Pro812Leu
ENST00000683962.1:c.*1991C>T ENSP00000506854.1:n.*1991C>T
ENST00000311895.8:c.2297C>T MANE Select ENSP00000310520.7:p.Pro766Leu
ENST00000311895.7:c.2297C>T ENSP00000310520.7:p.Pro766Leu
ENST00000389138.7:n.1574C>T
ENST00000462862.1:c.610C>T ENSP00000461322.1:n.610C>T
NM_005236.2:c.2297C>T , LRG_463t1:c.2297C>T NP_005227.1:p.Pro766Leu
XM_011522424.1:c.2435C>T XP_011520726.1:p.Pro812Leu
XM_011522425.1:c.1754C>T XP_011520727.1:p.Pro585Leu
XM_011522426.1:c.1508C>T XP_011520728.1:p.Pro503Leu
XM_011522427.1:c.947C>T XP_011520729.1:p.Pro316Leu
XR_932805.1:n.2456C>T
XM_011522424.3:c.2435C>T XP_011520726.1:p.Pro812Leu
XM_017023043.2:c.1508C>T XP_016878532.1:p.Pro503Leu
NM_005236.3:c.2297C>T MANE Select NP_005227.1:p.Pro766Leu