Canonical Allele Identifier: CA87818396

Gene: WDR49

Linked Data

• dbSNP Id: rs140672876
• gnomAD v2: 3-167348748-T-C
• gnomAD v3: 3-167630960-T-C
• gnomAD v4: 3-167630960-T-C
• MyVariant Identifiers: chr3:g.167348748T>C (hg19) ; chr3:g.167630960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167630960T>C , CM000665.2:g.167630960T>C	GRCh38
NC_000003.11:g.167348748T>C , CM000665.1:g.167348748T>C	GRCh37
NC_000003.10:g.168831442T>C	NCBI36
NG_053014.1:g.32044A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647816.2:c.166-3668A>G	ENSP00000497120.1:n.166-3668A>G
ENST00000682715.1:c.166-3668A>G MANE Select	ENSP00000507497.1:n.166-3668A>G
ENST00000647816.1:c.166-3668A>G	ENSP00000497120.1:n.166-3668A>G
ENST00000308378.7:c.-66+22301A>G	ENSP00000311343.3:n.-66+22301A>G
ENST00000460448.5:c.165+22301A>G	ENSP00000417090.1:n.165+22301A>G
ENST00000466760.5:c.165+22301A>G	ENSP00000418718.1:n.165+22301A>G
ENST00000471198.1:n.410+2449A>G
ENST00000479765.5:c.166-3668A>G	ENSP00000419749.1:n.166-3668A>G
ENST00000488012.5:c.166-9317A>G	ENSP00000419917.1:n.166-9317A>G
NM_178824.3:c.-66+22301A>G	NP_849146.1:n.-66+22301A>G
NM_001348951.1:c.166-3668A>G	NP_001335880.1:n.166-3668A>G
NM_001348952.1:c.166-3668A>G	NP_001335881.1:n.166-3668A>G
NM_001366157.1:c.166-3668A>G MANE Select	NP_001353086.1:n.166-3668A>G
NM_001366158.1:c.-66+22301A>G	NP_001353087.1:n.-66+22301A>G
NM_001348951.2:c.166-3668A>G	NP_001335880.1:n.166-3668A>G
NM_001348952.2:c.166-3668A>G	NP_001335881.1:n.166-3668A>G