Canonical Allele Identifier: CA2891675

Gene: WDR19

Linked Data

• ClinVar Variation Id: 899609
• ClinVar RCV Id: RCV001144280 ; RCV001150372 ; RCV001202820 ; RCV002480532 ; RCV002276635 ; RCV004528395
• dbSNP Id: rs202232525
• ExAC: 4:39206859 A / C
• gnomAD v2: 4-39206859-A-C
• gnomAD v3: 4-39205239-A-C
• gnomAD v4: 4-39205239-A-C
• MyVariant Identifiers: chr4:g.39206859A>C (hg19) ; chr4:g.39205239A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205239A>C , CM000666.2:g.39205239A>C	GRCh38
NC_000004.11:g.39206859A>C , CM000666.1:g.39206859A>C	GRCh37
NC_000004.10:g.38883254A>C	NCBI36
NG_031813.1:g.27836A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.689A>C MANE Select	ENSP00000382717.3:p.Asp230Ala
ENST00000399820.7:c.689A>C	ENSP00000382717.3:p.Asp230Ala
ENST00000503697.5:c.*157A>C	ENSP00000423706.1:n.*157A>C
ENST00000505055.5:c.*270A>C	ENSP00000425949.1:n.*270A>C
ENST00000506503.1:c.689A>C	ENSP00000423491.1:p.Asp230Ala
ENST00000506869.5:c.*270A>C	ENSP00000424319.1:n.*270A>C
ENST00000511729.5:n.40+22676A>C
ENST00000512448.1:n.283A>C
NM_025132.3:c.689A>C	NP_079408.3:p.Asp230Ala
XM_011513724.1:c.689A>C	XP_011512026.1:p.Asp230Ala
XM_011513725.1:c.623A>C	XP_011512027.1:p.Asp208Ala
XM_011513726.1:c.209A>C	XP_011512028.1:p.Asp70Ala
XM_011513727.1:c.209A>C	XP_011512029.1:p.Asp70Ala
XM_011513728.1:c.209A>C	XP_011512030.1:p.Asp70Ala
XM_011513729.1:c.689A>C	XP_011512031.1:p.Asp230Ala
XR_925155.1:n.753A>C
NM_001317924.1:c.209A>C	NP_001304853.1:p.Asp70Ala
XM_011513725.2:c.623A>C	XP_011512027.1:p.Asp208Ala
XM_011513726.3:c.209A>C	XP_011512028.1:p.Asp70Ala
XM_017008501.1:c.209A>C	XP_016863990.1:p.Asp70Ala
XR_001741306.1:n.753A>C
XR_001741307.1:n.753A>C
XR_001741308.1:n.753A>C
XR_001741309.1:n.753A>C
XR_001741310.1:n.753A>C
XR_001741311.2:n.602A>C
XR_001741312.1:n.753A>C
NM_025132.4:c.689A>C MANE Select	NP_079408.3:p.Asp230Ala
NM_001317924.2:c.209A>C	NP_001304853.1:p.Asp70Ala