Canonical Allele Identifier: CA1542800

Gene: WDR35

Linked Data

• ClinVar Variation Id: 838113
• ClinVar RCV Id: RCV001039598 ; RCV002051911 ; RCV002551451
• dbSNP Id: rs138076014
• ExAC: 2:20131058 C / T
• gnomAD v2: 2-20131058-C-T
• gnomAD v3: 2-19931297-C-T
• gnomAD v4: 2-19931297-C-T
• MyVariant Identifiers: chr2:g.20131058C>T (hg19) ; chr2:g.19931297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19931297C>T , CM000664.2:g.19931297C>T	GRCh38
NC_000002.11:g.20131058C>T , CM000664.1:g.20131058C>T	GRCh37
NC_000002.10:g.19994539C>T	NCBI36
NG_021212.1:g.63827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281405.9:c.2936G>A MANE Select	ENSP00000281405.5:p.Arg979Gln
ENST00000345530.8:c.2969G>A MANE Plus Clinical	ENSP00000314444.5:p.Arg990Gln
ENST00000281405.8:c.2936G>A	ENSP00000281405.4:p.Arg979Gln
ENST00000345530.7:c.2969G>A	ENSP00000314444.5:p.Arg990Gln
ENST00000414212.5:c.*251G>A	ENSP00000390802.1:n.*251G>A
ENST00000445063.5:c.2136G>A
NM_001006657.1:c.2969G>A	NP_001006658.1:p.Arg990Gln
NM_020779.3:c.2936G>A	NP_065830.2:p.Arg979Gln
XM_011533007.1:c.1664G>A	XP_011531309.1:p.Arg555Gln
XR_426989.2:n.2869G>A
XM_011533007.2:c.1664G>A	XP_011531309.1:p.Arg555Gln
XR_426989.3:n.2869G>A
NM_001006657.2:c.2969G>A MANE Plus Clinical	NP_001006658.1:p.Arg990Gln
NM_020779.4:c.2936G>A MANE Select	NP_065830.2:p.Arg979Gln