Canonical Allele Identifier: CA394824047
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs141790888

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948073C>A , CM000678.2:g.13948073C>A GRCh38
NC_000016.9:g.14041930C>A , CM000678.1:g.14041930C>A GRCh37
NC_000016.8:g.13949431C>A NCBI36
NG_011442.1:g.32917C>A , LRG_463:g.32917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2615C>A ENSP00000507912.1:p.Ala872Glu
ENST00000683962.1:c.*2171C>A ENSP00000506854.1:n.*2171C>A
ENST00000311895.8:c.2477C>A MANE Select ENSP00000310520.7:p.Ala826Glu
ENST00000311895.7:c.2477C>A ENSP00000310520.7:p.Ala826Glu
ENST00000389138.7:n.1754C>A
NM_005236.2:c.2477C>A , LRG_463t1:c.2477C>A NP_005227.1:p.Ala826Glu
XM_011522424.1:c.2615C>A XP_011520726.1:p.Ala872Glu
XM_011522425.1:c.1934C>A XP_011520727.1:p.Ala645Glu
XM_011522426.1:c.1688C>A XP_011520728.1:p.Ala563Glu
XM_011522427.1:c.1127C>A XP_011520729.1:p.Ala376Glu
XR_932805.1:n.2636C>A
XM_011522424.3:c.2615C>A XP_011520726.1:p.Ala872Glu
XM_017023043.2:c.1688C>A XP_016878532.1:p.Ala563Glu
NM_005236.3:c.2477C>A MANE Select NP_005227.1:p.Ala826Glu