Canonical Allele Identifier: CA493689980
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041763T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947906T>G , CM000678.2:g.13947906T>G GRCh38
NC_000016.9:g.14041763T>G , CM000678.1:g.14041763T>G GRCh37
NC_000016.8:g.13949264T>G NCBI36
NG_011442.1:g.32750T>G , LRG_463:g.32750T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2448T>G ENSP00000507912.1:p.Thr816=
ENST00000683962.1:c.*2004T>G ENSP00000506854.1:n.*2004T>G
ENST00000311895.8:c.2310T>G MANE Select ENSP00000310520.7:p.Thr770=
ENST00000311895.7:c.2310T>G ENSP00000310520.7:p.Thr770=
ENST00000389138.7:n.1587T>G
ENST00000462862.1:c.623T>G ENSP00000461322.1:n.623T>G
NM_005236.2:c.2310T>G , LRG_463t1:c.2310T>G NP_005227.1:p.Thr770=
XM_011522424.1:c.2448T>G XP_011520726.1:p.Thr816=
XM_011522425.1:c.1767T>G XP_011520727.1:p.Thr589=
XM_011522426.1:c.1521T>G XP_011520728.1:p.Thr507=
XM_011522427.1:c.960T>G XP_011520729.1:p.Thr320=
XR_932805.1:n.2469T>G
XM_011522424.3:c.2448T>G XP_011520726.1:p.Thr816=
XM_017023043.2:c.1521T>G XP_016878532.1:p.Thr507=
NM_005236.3:c.2310T>G MANE Select NP_005227.1:p.Thr770=