Canonical Allele Identifier: CA493689990
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2141620490
MyVariant Identifiers: chr16:g.14041775C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947918C>A , CM000678.2:g.13947918C>A GRCh38
NC_000016.9:g.14041775C>A , CM000678.1:g.14041775C>A GRCh37
NC_000016.8:g.13949276C>A NCBI36
NG_011442.1:g.32762C>A , LRG_463:g.32762C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2460C>A ENSP00000507912.1:p.Ala820=
ENST00000683962.1:c.*2016C>A ENSP00000506854.1:n.*2016C>A
ENST00000311895.8:c.2322C>A MANE Select ENSP00000310520.7:p.Ala774=
ENST00000311895.7:c.2322C>A ENSP00000310520.7:p.Ala774=
ENST00000389138.7:n.1599C>A
ENST00000462862.1:c.635C>A ENSP00000461322.1:n.635C>A
NM_005236.2:c.2322C>A , LRG_463t1:c.2322C>A NP_005227.1:p.Ala774=
XM_011522424.1:c.2460C>A XP_011520726.1:p.Ala820=
XM_011522425.1:c.1779C>A XP_011520727.1:p.Ala593=
XM_011522426.1:c.1533C>A XP_011520728.1:p.Ala511=
XM_011522427.1:c.972C>A XP_011520729.1:p.Ala324=
XR_932805.1:n.2481C>A
XM_011522424.3:c.2460C>A XP_011520726.1:p.Ala820=
XM_017023043.2:c.1533C>A XP_016878532.1:p.Ala511=
NM_005236.3:c.2322C>A MANE Select NP_005227.1:p.Ala774=