Canonical Allele Identifier: CA356638741

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1426365
• ClinVar RCV Id: RCV001929370
• dbSNP Id: rs2109406888
• gnomAD v4: 4-39244542-T-C
• MyVariant Identifiers: chr4:g.39246162T>C (hg19) ; chr4:g.39244542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244542T>C , CM000666.2:g.39244542T>C	GRCh38
NC_000004.11:g.39246162T>C , CM000666.1:g.39246162T>C	GRCh37
NC_000004.10:g.38922557T>C	NCBI36
NG_031813.1:g.67139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2635T>C MANE Select	ENSP00000382717.3:p.Ser879Pro
ENST00000399820.7:c.2635T>C	ENSP00000382717.3:p.Ser879Pro
ENST00000506869.5:c.*2216T>C	ENSP00000424319.1:n.*2216T>C
ENST00000512095.5:n.1633T>C
NM_025132.3:c.2635T>C	NP_079408.3:p.Ser879Pro
XM_011513724.1:c.2647T>C	XP_011512026.1:p.Ser883Pro
XM_011513725.1:c.2581T>C	XP_011512027.1:p.Ser861Pro
XM_011513726.1:c.2167T>C	XP_011512028.1:p.Ser723Pro
XM_011513727.1:c.2167T>C	XP_011512029.1:p.Ser723Pro
XM_011513728.1:c.2155T>C	XP_011512030.1:p.Ser719Pro
XM_011513729.1:c.2647T>C	XP_011512031.1:p.Ser883Pro
XR_925155.1:n.2711T>C
NM_001317924.1:c.2155T>C	NP_001304853.1:p.Ser719Pro
XM_011513725.2:c.2581T>C	XP_011512027.1:p.Ser861Pro
XM_011513726.3:c.2167T>C	XP_011512028.1:p.Ser723Pro
XM_017008501.1:c.2155T>C	XP_016863990.1:p.Ser719Pro
XR_001741306.1:n.2711T>C
XR_001741307.1:n.2699T>C
XR_001741308.1:n.2711T>C
XR_001741309.1:n.2699T>C
XR_001741310.1:n.2699T>C
XR_001741311.2:n.2548T>C
NM_025132.4:c.2635T>C MANE Select	NP_079408.3:p.Ser879Pro
NM_001317924.2:c.2155T>C	NP_001304853.1:p.Ser719Pro