Canonical Allele Identifier: CA344941

Gene: WDR35

Linked Data

• ClinVar Variation Id: 65619
• ClinVar RCV Id: RCV000055830 ; RCV000288028 ; RCV000515864 ; RCV000648351 ; RCV000826131 ; RCV001557398
• dbSNP Id: rs199952377
• ExAC: 2:20141557 A / C
• gnomAD v2: 2-20141557-A-C
• gnomAD v3: 2-19941796-A-C
• gnomAD v4: 2-19941796-A-C
• MyVariant Identifiers: chr2:g.20141557A>C (hg19) ; chr2:g.19941796A>C (hg38)
• PubMed: PMID:22486404 ; PMID:24027799 ; PMID:25914204 ; PMID:28332779 ; PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19941796A>C , CM000664.2:g.19941796A>C	GRCh38
NC_000002.11:g.20141557A>C , CM000664.1:g.20141557A>C	GRCh37
NC_000002.10:g.20005038A>C	NCBI36
NG_021212.1:g.53328T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281405.9:c.1889T>G MANE Select	ENSP00000281405.5:p.Leu630Ter
ENST00000345530.8:c.1922T>G MANE Plus Clinical	ENSP00000314444.5:p.Leu641Ter
ENST00000281405.8:c.1889T>G	ENSP00000281405.4:p.Leu630Ter
ENST00000345530.7:c.1922T>G	ENSP00000314444.5:p.Leu641Ter
ENST00000414212.5:c.1922T>G	ENSP00000390802.1:p.Leu641Ter
ENST00000445063.5:c.1365T>G
ENST00000453014.1:c.527T>G	ENSP00000404409.1:p.Leu176Ter
NM_001006657.1:c.1922T>G	NP_001006658.1:p.Leu641Ter
NM_020779.3:c.1889T>G	NP_065830.2:p.Leu630Ter
XM_011533007.1:c.617T>G	XP_011531309.1:p.Leu206Ter
XR_426989.2:n.1922T>G
XR_939699.1:n.1879-71T>G
XM_011533007.2:c.617T>G	XP_011531309.1:p.Leu206Ter
XR_001738862.1:n.1922T>G
XR_426989.3:n.1922T>G
XR_939699.3:n.1879-71T>G
NM_001006657.2:c.1922T>G MANE Plus Clinical	NP_001006658.1:p.Leu641Ter
NM_020779.4:c.1889T>G MANE Select	NP_065830.2:p.Leu630Ter