Canonical Allele Identifier: CA207959

Gene: WDR35

Linked Data

• ClinVar Variation Id: 212590
• ClinVar RCV Id: RCV000194057 ; RCV000648352 ; RCV001143632 ; RCV001143633 ; RCV001582689 ; RCV004530150
• dbSNP Id: rs74470618
• ExAC: 2:20137705 C / T
• gnomAD v2: 2-20137705-C-T
• gnomAD v3: 2-19937944-C-T
• gnomAD v4: 2-19937944-C-T
• MyVariant Identifiers: chr2:g.20137705C>T (hg19) ; chr2:g.19937944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19937944C>T , CM000664.2:g.19937944C>T	GRCh38
NC_000002.11:g.20137705C>T , CM000664.1:g.20137705C>T	GRCh37
NC_000002.10:g.20001186C>T	NCBI36
NG_021212.1:g.57180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281405.9:c.2066G>A MANE Select	ENSP00000281405.5:p.Arg689His
ENST00000345530.8:c.2099G>A MANE Plus Clinical	ENSP00000314444.5:p.Arg700His
ENST00000281405.8:c.2066G>A	ENSP00000281405.4:p.Arg689His
ENST00000345530.7:c.2099G>A	ENSP00000314444.5:p.Arg700His
ENST00000414212.5:c.2099G>A	ENSP00000390802.1:p.Arg700His
ENST00000445063.5:c.1542G>A
ENST00000453014.1:c.704G>A	ENSP00000404409.1:p.Arg235His
NM_001006657.1:c.2099G>A	NP_001006658.1:p.Arg700His
NM_020779.3:c.2066G>A	NP_065830.2:p.Arg689His
XM_011533007.1:c.794G>A	XP_011531309.1:p.Arg265His
XR_426989.2:n.2099G>A
XM_011533007.2:c.794G>A	XP_011531309.1:p.Arg265His
XR_001738862.1:n.2043G>A
XR_426989.3:n.2099G>A
NM_001006657.2:c.2099G>A MANE Plus Clinical	NP_001006658.1:p.Arg700His
NM_020779.4:c.2066G>A MANE Select	NP_065830.2:p.Arg689His