Canonical Allele Identifier: CA1543169

Gene: WDR35

Linked Data

• ClinVar Variation Id: 333393
• ClinVar RCV Id: RCV000273395 ; RCV000878115 ; RCV000312074 ; RCV001574327
• dbSNP Id: rs148242353
• ExAC: 2:20146265 G / C
• gnomAD v2: 2-20146265-G-C
• gnomAD v3: 2-19946504-G-C
• gnomAD v4: 2-19946504-G-C
• MyVariant Identifiers: chr2:g.20146265G>C (hg19) ; chr2:g.19946504G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19946504G>C , CM000664.2:g.19946504G>C	GRCh38
NC_000002.11:g.20146265G>C , CM000664.1:g.20146265G>C	GRCh37
NC_000002.10:g.20009746G>C	NCBI36
NG_021212.1:g.48620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281405.9:c.1591C>G MANE Select	ENSP00000281405.5:p.Leu531Val
ENST00000345530.8:c.1624C>G MANE Plus Clinical	ENSP00000314444.5:p.Leu542Val
ENST00000281405.8:c.1591C>G	ENSP00000281405.4:p.Leu531Val
ENST00000345530.7:c.1624C>G	ENSP00000314444.5:p.Leu542Val
ENST00000414212.5:c.1624C>G	ENSP00000390802.1:p.Leu542Val
ENST00000445063.5:c.1067C>G
ENST00000453014.1:c.229C>G	ENSP00000404409.1:p.Leu77Val
NM_001006657.1:c.1624C>G	NP_001006658.1:p.Leu542Val
NM_020779.3:c.1591C>G	NP_065830.2:p.Leu531Val
XM_011533007.1:c.319C>G	XP_011531309.1:p.Leu107Val
XR_426989.2:n.1624C>G
XR_939699.1:n.1624C>G
XM_011533007.2:c.319C>G	XP_011531309.1:p.Leu107Val
XR_001738862.1:n.1624C>G
XR_426989.3:n.1624C>G
XR_939699.3:n.1624C>G
NM_001006657.2:c.1624C>G MANE Plus Clinical	NP_001006658.1:p.Leu542Val
NM_020779.4:c.1591C>G MANE Select	NP_065830.2:p.Leu531Val