Canonical Allele Identifier: CA1543248
Gene: WDR35 HGNC NCBI
COSMIC:
COSM77007
MyVariant.info:
GRCh38 chr2:g.19953852C>T
GRCh37 chr2:g.20153613C>T
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.211
ENST00000281405 (MANE Select) 0.211
ENST00000416055 0.211
ENST00000453014 0.211
gnomAD v2:
2:20153613 C / T
gnomAD v3:
2:19953852 C / T
gnomAD v4:
chr2-19953852-C-T
Joint Max Group AF 0.00002863 (SAS)
Genomes Max Group AF 0.00000797 (AFR)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV000504572
ClinVar Variation:
437865
dbSNP:
200140363
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19953852C>T , CM000664.2:g.19953852C>T GRCh38
NC_000002.11:g.20153613C>T , CM000664.1:g.20153613C>T GRCh37
NC_000002.10:g.20017094C>T NCBI36
NG_021212.1:g.41272G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.1382G>A MANE Select ENSP00000281405.5:p.Arg461Gln
ENST00000345530.8:c.1415G>A MANE Plus Clinical ENSP00000314444.5:p.Arg472Gln
ENST00000281405.8:c.1382G>A ENSP00000281405.4:p.Arg461Gln
ENST00000345530.7:c.1415G>A ENSP00000314444.5:p.Arg472Gln
ENST00000414212.5:c.1415G>A ENSP00000390802.1:p.Arg472Gln
ENST00000445063.5:c.858G>A
ENST00000453014.1:c.20G>A ENSP00000404409.1:p.Arg7Gln
NM_001006657.1:c.1415G>A NP_001006658.1:p.Arg472Gln
NM_020779.3:c.1382G>A NP_065830.2:p.Arg461Gln
XM_011533007.1:c.110G>A XP_011531309.1:p.Arg37Gln
XR_426989.2:n.1415G>A
XR_939699.1:n.1415G>A
XM_011533007.2:c.110G>A XP_011531309.1:p.Arg37Gln
XR_001738862.1:n.1415G>A
XR_426989.3:n.1415G>A
XR_939699.3:n.1415G>A
NM_001006657.2:c.1415G>A MANE Plus Clinical NP_001006658.1:p.Arg472Gln
NM_020779.4:c.1382G>A MANE Select NP_065830.2:p.Arg461Gln
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