Canonical Allele Identifier: CA2891677

Gene: WDR19

Linked Data

• ClinVar Variation Id: 972117
• ClinVar RCV Id: RCV001248075
• dbSNP Id: rs755629699
• ExAC: 4:39206880 A / G
• gnomAD v2: 4-39206880-A-G
• gnomAD v3: 4-39205260-A-G
• gnomAD v4: 4-39205260-A-G
• MyVariant Identifiers: chr4:g.39206880A>G (hg19) ; chr4:g.39205260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205260A>G , CM000666.2:g.39205260A>G	GRCh38
NC_000004.11:g.39206880A>G , CM000666.1:g.39206880A>G	GRCh37
NC_000004.10:g.38883275A>G	NCBI36
NG_031813.1:g.27857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.710A>G MANE Select	ENSP00000382717.3:p.Tyr237Cys
ENST00000399820.7:c.710A>G	ENSP00000382717.3:p.Tyr237Cys
ENST00000503697.5:c.*178A>G	ENSP00000423706.1:n.*178A>G
ENST00000505055.5:c.*291A>G	ENSP00000425949.1:n.*291A>G
ENST00000506503.1:c.710A>G	ENSP00000423491.1:p.Tyr237Cys
ENST00000506869.5:c.*291A>G	ENSP00000424319.1:n.*291A>G
ENST00000511729.5:n.40+22697A>G
ENST00000512448.1:n.304A>G
NM_025132.3:c.710A>G	NP_079408.3:p.Tyr237Cys
XM_011513724.1:c.710A>G	XP_011512026.1:p.Tyr237Cys
XM_011513725.1:c.644A>G	XP_011512027.1:p.Tyr215Cys
XM_011513726.1:c.230A>G	XP_011512028.1:p.Tyr77Cys
XM_011513727.1:c.230A>G	XP_011512029.1:p.Tyr77Cys
XM_011513728.1:c.230A>G	XP_011512030.1:p.Tyr77Cys
XM_011513729.1:c.710A>G	XP_011512031.1:p.Tyr237Cys
XR_925155.1:n.774A>G
NM_001317924.1:c.230A>G	NP_001304853.1:p.Tyr77Cys
XM_011513725.2:c.644A>G	XP_011512027.1:p.Tyr215Cys
XM_011513726.3:c.230A>G	XP_011512028.1:p.Tyr77Cys
XM_017008501.1:c.230A>G	XP_016863990.1:p.Tyr77Cys
XR_001741306.1:n.774A>G
XR_001741307.1:n.774A>G
XR_001741308.1:n.774A>G
XR_001741309.1:n.774A>G
XR_001741310.1:n.774A>G
XR_001741311.2:n.623A>G
XR_001741312.1:n.774A>G
NM_025132.4:c.710A>G MANE Select	NP_079408.3:p.Tyr237Cys
NM_001317924.2:c.230A>G	NP_001304853.1:p.Tyr77Cys