Canonical Allele Identifier: CA493689996
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2032551827
MyVariant Identifiers: chr16:g.14041784G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947927G>A , CM000678.2:g.13947927G>A GRCh38
NC_000016.9:g.14041784G>A , CM000678.1:g.14041784G>A GRCh37
NC_000016.8:g.13949285G>A NCBI36
NG_011442.1:g.32771G>A , LRG_463:g.32771G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2469G>A ENSP00000507912.1:p.Gln823=
ENST00000683962.1:c.*2025G>A ENSP00000506854.1:n.*2025G>A
ENST00000311895.8:c.2331G>A MANE Select ENSP00000310520.7:p.Gln777=
ENST00000311895.7:c.2331G>A ENSP00000310520.7:p.Gln777=
ENST00000389138.7:n.1608G>A
ENST00000462862.1:c.644G>A ENSP00000461322.1:n.644G>A
NM_005236.2:c.2331G>A , LRG_463t1:c.2331G>A NP_005227.1:p.Gln777=
XM_011522424.1:c.2469G>A XP_011520726.1:p.Gln823=
XM_011522425.1:c.1788G>A XP_011520727.1:p.Gln596=
XM_011522426.1:c.1542G>A XP_011520728.1:p.Gln514=
XM_011522427.1:c.981G>A XP_011520729.1:p.Gln327=
XR_932805.1:n.2490G>A
XM_011522424.3:c.2469G>A XP_011520726.1:p.Gln823=
XM_017023043.2:c.1542G>A XP_016878532.1:p.Gln514=
NM_005236.3:c.2331G>A MANE Select NP_005227.1:p.Gln777=