Canonical Allele Identifier: CA493444396
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1596634067
MyVariant Identifiers: chr16:g.14038652C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944795C>T , CM000678.2:g.13944795C>T GRCh38
NC_000016.9:g.14038652C>T , CM000678.1:g.14038652C>T GRCh37
NC_000016.8:g.13946153C>T NCBI36
NG_011442.1:g.29639C>T , LRG_463:g.29639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2115C>T ENSP00000507912.1:p.Gly705=
ENST00000683962.1:c.*1671C>T ENSP00000506854.1:n.*1671C>T
ENST00000311895.8:c.1977C>T MANE Select ENSP00000310520.7:p.Gly659=
ENST00000311895.7:c.1977C>T ENSP00000310520.7:p.Gly659=
ENST00000389138.7:n.1254C>T
ENST00000462862.1:c.290C>T ENSP00000461322.1:n.290C>T
NM_005236.2:c.1977C>T , LRG_463t1:c.1977C>T NP_005227.1:p.Gly659=
XM_011522424.1:c.2115C>T XP_011520726.1:p.Gly705=
XM_011522425.1:c.1434C>T XP_011520727.1:p.Gly478=
XM_011522426.1:c.1188C>T XP_011520728.1:p.Gly396=
XM_011522427.1:c.627C>T XP_011520729.1:p.Gly209=
XR_932805.1:n.2136C>T
XM_011522424.3:c.2115C>T XP_011520726.1:p.Gly705=
XM_017023043.2:c.1188C>T XP_016878532.1:p.Gly396=
NM_005236.3:c.1977C>T MANE Select NP_005227.1:p.Gly659=