Canonical Allele Identifier: CA493689808
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs555317161
MyVariant Identifiers: chr16:g.14041718C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947861C>A , CM000678.2:g.13947861C>A GRCh38
NC_000016.9:g.14041718C>A , CM000678.1:g.14041718C>A GRCh37
NC_000016.8:g.13949219C>A NCBI36
NG_011442.1:g.32705C>A , LRG_463:g.32705C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2403C>A ENSP00000507912.1:p.Pro801=
ENST00000683962.1:c.*1959C>A ENSP00000506854.1:n.*1959C>A
ENST00000311895.8:c.2265C>A MANE Select ENSP00000310520.7:p.Pro755=
ENST00000311895.7:c.2265C>A ENSP00000310520.7:p.Pro755=
ENST00000389138.7:n.1542C>A
ENST00000462862.1:c.578C>A ENSP00000461322.1:n.578C>A
NM_005236.2:c.2265C>A , LRG_463t1:c.2265C>A NP_005227.1:p.Pro755=
XM_011522424.1:c.2403C>A XP_011520726.1:p.Pro801=
XM_011522425.1:c.1722C>A XP_011520727.1:p.Pro574=
XM_011522426.1:c.1476C>A XP_011520728.1:p.Pro492=
XM_011522427.1:c.915C>A XP_011520729.1:p.Pro305=
XR_932805.1:n.2424C>A
XM_011522424.3:c.2403C>A XP_011520726.1:p.Pro801=
XM_017023043.2:c.1476C>A XP_016878532.1:p.Pro492=
NM_005236.3:c.2265C>A MANE Select NP_005227.1:p.Pro755=