Canonical Allele Identifier: CA1542711
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19914147C>T
GRCh37 chr2:g.20113908C>T
gnomAD v2:
2:20113908 C / T
gnomAD v3:
2:19914147 C / T
gnomAD v4:
chr2-19914147-C-T
Joint Max Group AF 0.00032406 (MID)
Genomes Max Group AF 0.00026014 (AMR)
Exomes Max Group AF 0.00037103 (AFR)
ClinVar Allele:
271977
ClinVar RCV:
RCV000352423
RCV001088237
RCV004535395
ClinVar Variation:
287740
dbSNP:
182360785
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19914147C>T , CM000664.2:g.19914147C>T GRCh38
NC_000002.11:g.20113908C>T , CM000664.1:g.20113908C>T GRCh37
NC_000002.10:g.19977389C>T NCBI36
NG_021212.1:g.80977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.3252G>A MANE Select ENSP00000281405.5:p.Glu1084=
ENST00000345530.8:c.3285G>A MANE Plus Clinical ENSP00000314444.5:p.Glu1095=
ENST00000281405.8:c.3252G>A ENSP00000281405.4:p.Glu1084=
ENST00000345530.7:c.3285G>A ENSP00000314444.5:p.Glu1095=
ENST00000414212.5:c.*567G>A ENSP00000390802.1:n.*567G>A
ENST00000445063.5:c.2322-439G>A
NM_001006657.1:c.3285G>A NP_001006658.1:p.Glu1095=
NM_020779.3:c.3252G>A NP_065830.2:p.Glu1084=
XM_011533007.1:c.1980G>A XP_011531309.1:p.Glu660=
XM_011533007.2:c.1980G>A XP_011531309.1:p.Glu660=
XR_426989.3:n.3185G>A
NM_001006657.2:c.3285G>A MANE Plus Clinical NP_001006658.1:p.Glu1095=
NM_020779.4:c.3252G>A MANE Select NP_065830.2:p.Glu1084=
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