Canonical Allele Identifier: CA493689810
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041721G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947864G>C , CM000678.2:g.13947864G>C GRCh38
NC_000016.9:g.14041721G>C , CM000678.1:g.14041721G>C GRCh37
NC_000016.8:g.13949222G>C NCBI36
NG_011442.1:g.32708G>C , LRG_463:g.32708G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2406G>C ENSP00000507912.1:p.Val802=
ENST00000683962.1:c.*1962G>C ENSP00000506854.1:n.*1962G>C
ENST00000311895.8:c.2268G>C MANE Select ENSP00000310520.7:p.Val756=
ENST00000311895.7:c.2268G>C ENSP00000310520.7:p.Val756=
ENST00000389138.7:n.1545G>C
ENST00000462862.1:c.581G>C ENSP00000461322.1:n.581G>C
NM_005236.2:c.2268G>C , LRG_463t1:c.2268G>C NP_005227.1:p.Val756=
XM_011522424.1:c.2406G>C XP_011520726.1:p.Val802=
XM_011522425.1:c.1725G>C XP_011520727.1:p.Val575=
XM_011522426.1:c.1479G>C XP_011520728.1:p.Val493=
XM_011522427.1:c.918G>C XP_011520729.1:p.Val306=
XR_932805.1:n.2427G>C
XM_011522424.3:c.2406G>C XP_011520726.1:p.Val802=
XM_017023043.2:c.1479G>C XP_016878532.1:p.Val493=
NM_005236.3:c.2268G>C MANE Select NP_005227.1:p.Val756=