Canonical Allele Identifier: CA493444432
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2141619661
MyVariant Identifiers: chr16:g.14041478G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947621G>A , CM000678.2:g.13947621G>A GRCh38
NC_000016.9:g.14041478G>A , CM000678.1:g.14041478G>A GRCh37
NC_000016.8:g.13948979G>A NCBI36
NG_011442.1:g.32465G>A , LRG_463:g.32465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2163G>A ENSP00000507912.1:p.Gln721=
ENST00000683962.1:c.*1719G>A ENSP00000506854.1:n.*1719G>A
ENST00000311895.8:c.2025G>A MANE Select ENSP00000310520.7:p.Gln675=
ENST00000311895.7:c.2025G>A ENSP00000310520.7:p.Gln675=
ENST00000389138.7:n.1302G>A
ENST00000462862.1:c.338G>A ENSP00000461322.1:n.338G>A
NM_005236.2:c.2025G>A , LRG_463t1:c.2025G>A NP_005227.1:p.Gln675=
XM_011522424.1:c.2163G>A XP_011520726.1:p.Gln721=
XM_011522425.1:c.1482G>A XP_011520727.1:p.Gln494=
XM_011522426.1:c.1236G>A XP_011520728.1:p.Gln412=
XM_011522427.1:c.675G>A XP_011520729.1:p.Gln225=
XR_932805.1:n.2184G>A
XM_011522424.3:c.2163G>A XP_011520726.1:p.Gln721=
XM_017023043.2:c.1236G>A XP_016878532.1:p.Gln412=
NM_005236.3:c.2025G>A MANE Select NP_005227.1:p.Gln675=