Canonical Allele Identifier: CA1542728

Gene: WDR35

Linked Data

• ClinVar Variation Id: 440412
• ClinVar RCV Id: RCV000507380 ; RCV000578488 ; RCV001266500
• dbSNP Id: rs541910371
• ExAC: 2:20113990 T / C
• gnomAD v2: 2-20113990-T-C
• gnomAD v3: 2-19914229-T-C
• gnomAD v4: 2-19914229-T-C
• MyVariant Identifiers: chr2:g.20113990T>C (hg19) ; chr2:g.19914229T>C (hg38)
• PubMed: PMID:24123776

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19914229T>C , CM000664.2:g.19914229T>C	GRCh38
NC_000002.11:g.20113990T>C , CM000664.1:g.20113990T>C	GRCh37
NC_000002.10:g.19977471T>C	NCBI36
NG_021212.1:g.80895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281405.9:c.3170A>G MANE Select	ENSP00000281405.5:p.Tyr1057Cys
ENST00000345530.8:c.3203A>G MANE Plus Clinical	ENSP00000314444.5:p.Tyr1068Cys
ENST00000281405.8:c.3170A>G	ENSP00000281405.4:p.Tyr1057Cys
ENST00000345530.7:c.3203A>G	ENSP00000314444.5:p.Tyr1068Cys
ENST00000414212.5:c.*485A>G	ENSP00000390802.1:n.*485A>G
ENST00000445063.5:c.2322-521A>G
NM_001006657.1:c.3203A>G	NP_001006658.1:p.Tyr1068Cys
NM_020779.3:c.3170A>G	NP_065830.2:p.Tyr1057Cys
XM_011533007.1:c.1898A>G	XP_011531309.1:p.Tyr633Cys
XM_011533007.2:c.1898A>G	XP_011531309.1:p.Tyr633Cys
XR_426989.3:n.3103A>G
NM_001006657.2:c.3203A>G MANE Plus Clinical	NP_001006658.1:p.Tyr1068Cys
NM_020779.4:c.3170A>G MANE Select	NP_065830.2:p.Tyr1057Cys