Canonical Allele Identifier: CA1543288
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19960561A>C
GRCh37 chr2:g.20160322A>C
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.582
ENST00000281405 (MANE Select) 0.582
gnomAD v2:
2:20160322 A / C
gnomAD v3:
2:19960561 A / C
gnomAD v4:
chr2-19960561-A-C
Joint Max Group AF 0.00439863 (AFR)
Genomes Max Group AF 0.00431013 (AFR)
Exomes Max Group AF 0.00414127 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19960561A>C , CM000664.2:g.19960561A>C GRCh38
NC_000002.11:g.20160322A>C , CM000664.1:g.20160322A>C GRCh37
NC_000002.10:g.20023803A>C NCBI36
NG_021212.1:g.34563T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.1248T>G MANE Select ENSP00000281405.5:p.Ile416Met
ENST00000345530.8:c.1281T>G MANE Plus Clinical ENSP00000314444.5:p.Ile427Met
ENST00000281405.8:c.1248T>G ENSP00000281405.4:p.Ile416Met
ENST00000345530.7:c.1281T>G ENSP00000314444.5:p.Ile427Met
ENST00000414212.5:c.1281T>G ENSP00000390802.1:p.Ile427Met
ENST00000445063.5:c.731+6163T>G
NM_001006657.1:c.1281T>G NP_001006658.1:p.Ile427Met
NM_020779.3:c.1248T>G NP_065830.2:p.Ile416Met
XM_011533007.1:c.-18+6163T>G XP_011531309.1:n.-18+6163T>G
XR_426989.2:n.1281T>G
XR_939699.1:n.1281T>G
XM_011533007.2:c.-18+6163T>G XP_011531309.1:n.-18+6163T>G
XR_001738862.1:n.1281T>G
XR_426989.3:n.1281T>G
XR_939699.3:n.1281T>G
NM_001006657.2:c.1281T>G MANE Plus Clinical NP_001006658.1:p.Ile427Met
NM_020779.4:c.1248T>G MANE Select NP_065830.2:p.Ile416Met
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