Canonical Allele Identifier: CA493689991
Gene: ERCC4 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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