Canonical Allele Identifier: CA1543350
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19966846C>T
GRCh37 chr2:g.20166607C>T
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.112
ENST00000281405 (MANE Select) 0.112
gnomAD v2:
2:20166607 C / T
gnomAD v3:
2:19966846 C / T
gnomAD v4:
chr2-19966846-C-T
Joint Max Group AF 0.00151682 (AFR)
Genomes Max Group AF 0.00139104 (AFR)
Exomes Max Group AF 0.00145618 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19966846C>T , CM000664.2:g.19966846C>T GRCh38
NC_000002.11:g.20166607C>T , CM000664.1:g.20166607C>T GRCh37
NC_000002.10:g.20030088C>T NCBI36
NG_021212.1:g.28278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.1072G>A MANE Select ENSP00000281405.5:p.Val358Ile
ENST00000345530.8:c.1072G>A MANE Plus Clinical ENSP00000314444.5:p.Val358Ile
ENST00000281405.8:c.1072G>A ENSP00000281405.4:p.Val358Ile
ENST00000345530.7:c.1072G>A ENSP00000314444.5:p.Val358Ile
ENST00000414212.5:c.1072G>A ENSP00000390802.1:p.Val358Ile
ENST00000445063.5:c.609G>A
NM_001006657.1:c.1072G>A NP_001006658.1:p.Val358Ile
NM_020779.3:c.1072G>A NP_065830.2:p.Val358Ile
XR_426989.2:n.1105G>A
XR_939699.1:n.1105G>A
XR_001738862.1:n.1105G>A
XR_426989.3:n.1105G>A
XR_939699.3:n.1105G>A
NM_001006657.2:c.1072G>A MANE Plus Clinical NP_001006658.1:p.Val358Ile
NM_020779.4:c.1072G>A MANE Select NP_065830.2:p.Val358Ile
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