Canonical Allele Identifier: CA1543169
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19946504G>C
GRCh37 chr2:g.20146265G>C
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.355
ENST00000281405 (MANE Select) 0.355
ENST00000416055 0.355
ENST00000453014 0.355
gnomAD v2:
2:20146265 G / C
gnomAD v3:
2:19946504 G / C
gnomAD v4:
chr2-19946504-G-C
Joint Max Group AF 0.00647813 (AFR)
Genomes Max Group AF 0.006548 (AFR)
Exomes Max Group AF 0.0059486 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19946504G>C , CM000664.2:g.19946504G>C GRCh38
NC_000002.11:g.20146265G>C , CM000664.1:g.20146265G>C GRCh37
NC_000002.10:g.20009746G>C NCBI36
NG_021212.1:g.48620C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.1591C>G MANE Select ENSP00000281405.5:p.Leu531Val
ENST00000345530.8:c.1624C>G MANE Plus Clinical ENSP00000314444.5:p.Leu542Val
ENST00000281405.8:c.1591C>G ENSP00000281405.4:p.Leu531Val
ENST00000345530.7:c.1624C>G ENSP00000314444.5:p.Leu542Val
ENST00000414212.5:c.1624C>G ENSP00000390802.1:p.Leu542Val
ENST00000445063.5:c.1067C>G
ENST00000453014.1:c.229C>G ENSP00000404409.1:p.Leu77Val
NM_001006657.1:c.1624C>G NP_001006658.1:p.Leu542Val
NM_020779.3:c.1591C>G NP_065830.2:p.Leu531Val
XM_011533007.1:c.319C>G XP_011531309.1:p.Leu107Val
XR_426989.2:n.1624C>G
XR_939699.1:n.1624C>G
XM_011533007.2:c.319C>G XP_011531309.1:p.Leu107Val
XR_001738862.1:n.1624C>G
XR_426989.3:n.1624C>G
XR_939699.3:n.1624C>G
NM_001006657.2:c.1624C>G MANE Plus Clinical NP_001006658.1:p.Leu542Val
NM_020779.4:c.1591C>G MANE Select NP_065830.2:p.Leu531Val
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