Canonical Allele Identifier: CA1542655

Gene: WDR35

Linked Data

• ClinVar Variation Id: 288788
• ClinVar RCV Id: RCV000377253 ; RCV001086217 ; RCV004535416
• dbSNP Id: rs147325795
• ExAC: 2:20113365 A / C
• gnomAD v2: 2-20113365-A-C
• gnomAD v3: 2-19913604-A-C
• gnomAD v4: 2-19913604-A-C
• MyVariant Identifiers: chr2:g.20113365A>C (hg19) ; chr2:g.19913604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19913604A>C , CM000664.2:g.19913604A>C	GRCh38
NC_000002.11:g.20113365A>C , CM000664.1:g.20113365A>C	GRCh37
NC_000002.10:g.19976846A>C	NCBI36
NG_021212.1:g.81520T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281405.9:c.3467T>G MANE Select	ENSP00000281405.5:p.Ile1156Arg
ENST00000345530.8:c.3500T>G MANE Plus Clinical	ENSP00000314444.5:p.Ile1167Arg
ENST00000281405.8:c.3467T>G	ENSP00000281405.4:p.Ile1156Arg
ENST00000345530.7:c.3500T>G	ENSP00000314444.5:p.Ile1167Arg
ENST00000414212.5:c.*782T>G	ENSP00000390802.1:n.*782T>G
ENST00000445063.5:c.2426T>G
NM_001006657.1:c.3500T>G	NP_001006658.1:p.Ile1167Arg
NM_020779.3:c.3467T>G	NP_065830.2:p.Ile1156Arg
XM_011533007.1:c.2195T>G	XP_011531309.1:p.Ile732Arg
XM_011533007.2:c.2195T>G	XP_011531309.1:p.Ile732Arg
XR_426989.3:n.3400T>G
NM_001006657.2:c.3500T>G MANE Plus Clinical	NP_001006658.1:p.Ile1167Arg
NM_020779.4:c.3467T>G MANE Select	NP_065830.2:p.Ile1156Arg