Canonical Allele Identifier: CA1542695
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19914064T>C
GRCh37 chr2:g.20113825T>C
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.023
ENST00000281405 (MANE Select) 0.023
gnomAD v2:
2:20113825 T / C
gnomAD v3:
2:19914064 T / C
gnomAD v4:
chr2-19914064-T-C
Joint Max Group AF 0.0028274 (AFR)
Genomes Max Group AF 0.00268841 (AFR)
Exomes Max Group AF 0.00270489 (AFR)
ClinVar Allele:
434044
ClinVar RCV:
RCV000508424
RCV000964762
RCV004541590
ClinVar Variation:
440416
dbSNP:
138007924
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19914064T>C , CM000664.2:g.19914064T>C GRCh38
NC_000002.11:g.20113825T>C , CM000664.1:g.20113825T>C GRCh37
NC_000002.10:g.19977306T>C NCBI36
NG_021212.1:g.81060A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.3335A>G MANE Select ENSP00000281405.5:p.Lys1112Arg
ENST00000345530.8:c.3368A>G MANE Plus Clinical ENSP00000314444.5:p.Lys1123Arg
ENST00000281405.8:c.3335A>G ENSP00000281405.4:p.Lys1112Arg
ENST00000345530.7:c.3368A>G ENSP00000314444.5:p.Lys1123Arg
ENST00000414212.5:c.*650A>G ENSP00000390802.1:n.*650A>G
ENST00000445063.5:c.2322-356A>G
NM_001006657.1:c.3368A>G NP_001006658.1:p.Lys1123Arg
NM_020779.3:c.3335A>G NP_065830.2:p.Lys1112Arg
XM_011533007.1:c.2063A>G XP_011531309.1:p.Lys688Arg
XM_011533007.2:c.2063A>G XP_011531309.1:p.Lys688Arg
XR_426989.3:n.3268A>G
NM_001006657.2:c.3368A>G MANE Plus Clinical NP_001006658.1:p.Lys1123Arg
NM_020779.4:c.3335A>G MANE Select NP_065830.2:p.Lys1112Arg
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