Canonical Allele Identifier: CA493690023
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041829A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947972A>C , CM000678.2:g.13947972A>C GRCh38
NC_000016.9:g.14041829A>C , CM000678.1:g.14041829A>C GRCh37
NC_000016.8:g.13949330A>C NCBI36
NG_011442.1:g.32816A>C , LRG_463:g.32816A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2514A>C ENSP00000507912.1:p.Thr838=
ENST00000683962.1:c.*2070A>C ENSP00000506854.1:n.*2070A>C
ENST00000311895.8:c.2376A>C MANE Select ENSP00000310520.7:p.Thr792=
ENST00000311895.7:c.2376A>C ENSP00000310520.7:p.Thr792=
ENST00000389138.7:n.1653A>C
ENST00000462862.1:c.689A>C ENSP00000461322.1:n.689A>C
NM_005236.2:c.2376A>C , LRG_463t1:c.2376A>C NP_005227.1:p.Thr792=
XM_011522424.1:c.2514A>C XP_011520726.1:p.Thr838=
XM_011522425.1:c.1833A>C XP_011520727.1:p.Thr611=
XM_011522426.1:c.1587A>C XP_011520728.1:p.Thr529=
XM_011522427.1:c.1026A>C XP_011520729.1:p.Thr342=
XR_932805.1:n.2535A>C
XM_011522424.3:c.2514A>C XP_011520726.1:p.Thr838=
XM_017023043.2:c.1587A>C XP_016878532.1:p.Thr529=
NM_005236.3:c.2376A>C MANE Select NP_005227.1:p.Thr792=