Canonical Allele Identifier: CA493689572
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2032276476
MyVariant Identifiers: chr16:g.14029559G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935702G>A , CM000678.2:g.13935702G>A GRCh38
NC_000016.9:g.14029559G>A , CM000678.1:g.14029559G>A GRCh37
NC_000016.8:g.13937060G>A NCBI36
NG_011442.1:g.20546G>A , LRG_463:g.20546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1848G>A
ENST00000682617.1:c.1908G>A ENSP00000507912.1:p.Gln636=
ENST00000682826.1:c.*1084G>A ENSP00000507274.1:n.*1084G>A
ENST00000682909.1:n.3810G>A
ENST00000683277.1:n.3415G>A
ENST00000683407.1:n.1778G>A
ENST00000683962.1:c.*1464G>A ENSP00000506854.1:n.*1464G>A
ENST00000311895.8:c.1770G>A MANE Select ENSP00000310520.7:p.Gln590=
ENST00000311895.7:c.1770G>A ENSP00000310520.7:p.Gln590=
ENST00000389138.7:n.1047G>A
NM_005236.2:c.1770G>A , LRG_463t1:c.1770G>A NP_005227.1:p.Gln590=
XM_011522424.1:c.1908G>A XP_011520726.1:p.Gln636=
XM_011522425.1:c.1227G>A XP_011520727.1:p.Gln409=
XM_011522426.1:c.981G>A XP_011520728.1:p.Gln327=
XM_011522427.1:c.420G>A XP_011520729.1:p.Gln140=
XR_932805.1:n.1929G>A
XM_011522424.3:c.1908G>A XP_011520726.1:p.Gln636=
XM_017023043.2:c.981G>A XP_016878532.1:p.Gln327=
NM_005236.3:c.1770G>A MANE Select NP_005227.1:p.Gln590=