Canonical Allele Identifier: CA339782

Gene: WDR35

Linked Data

• ClinVar Variation Id: 23
• ClinVar RCV Id: RCV000000040 ; RCV000508347
• dbSNP Id: rs267607175
• ExAC: 2:20133230 C / T
• gnomAD v2: 2-20133230-C-T
• gnomAD v3: 2-19933469-C-T
• gnomAD v4: 2-19933469-C-T
• MyVariant Identifiers: chr2:g.20133230C>T (hg19) ; chr2:g.19933469C>T (hg38)
• PubMed: PMID:20817137 ; PMID:24027799

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19933469C>T , CM000664.2:g.19933469C>T	GRCh38
NC_000002.11:g.20133230C>T , CM000664.1:g.20133230C>T	GRCh37
NC_000002.10:g.19996711C>T	NCBI36
NG_021212.1:g.61655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281405.9:c.2590G>A MANE Select	ENSP00000281405.5:p.Ala864Thr
ENST00000345530.8:c.2623G>A MANE Plus Clinical	ENSP00000314444.5:p.Ala875Thr
ENST00000281405.8:c.2590G>A	ENSP00000281405.4:p.Ala864Thr
ENST00000345530.7:c.2623G>A	ENSP00000314444.5:p.Ala875Thr
ENST00000414212.5:c.*5G>A	ENSP00000390802.1:n.*5G>A
ENST00000445063.5:c.2023+2002G>A
NM_001006657.1:c.2623G>A	NP_001006658.1:p.Ala875Thr
NM_020779.3:c.2590G>A	NP_065830.2:p.Ala864Thr
XM_011533007.1:c.1318G>A	XP_011531309.1:p.Ala440Thr
XR_426989.2:n.2623G>A
XM_011533007.2:c.1318G>A	XP_011531309.1:p.Ala440Thr
XR_001738862.1:n.2567G>A
XR_426989.3:n.2623G>A
NM_001006657.2:c.2623G>A MANE Plus Clinical	NP_001006658.1:p.Ala875Thr
NM_020779.4:c.2590G>A MANE Select	NP_065830.2:p.Ala864Thr