Canonical Allele Identifier: CA2891887

Gene: WDR19

Linked Data

• ClinVar Variation Id: 348737
• ClinVar RCV Id: RCV000284017 ; RCV000320324 ; RCV000653252 ; RCV004544651 ; RCV002244827 ; RCV002244828
• dbSNP Id: rs749672769
• ExAC: 4:39226619 T / C
• gnomAD v2: 4-39226619-T-C
• gnomAD v3: 4-39224999-T-C
• gnomAD v4: 4-39224999-T-C
• MyVariant Identifiers: chr4:g.39226619T>C (hg19) ; chr4:g.39224999T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39224999T>C , CM000666.2:g.39224999T>C	GRCh38
NC_000004.11:g.39226619T>C , CM000666.1:g.39226619T>C	GRCh37
NC_000004.10:g.38903014T>C	NCBI36
NG_031813.1:g.47596T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.1595T>C MANE Select	ENSP00000382717.3:p.Ile532Thr
ENST00000399820.7:c.1595T>C	ENSP00000382717.3:p.Ile532Thr
ENST00000506869.5:c.*1176T>C	ENSP00000424319.1:n.*1176T>C
ENST00000511729.5:n.41-3559T>C
ENST00000512095.5:n.593T>C
NM_025132.3:c.1595T>C	NP_079408.3:p.Ile532Thr
XM_011513724.1:c.1595T>C	XP_011512026.1:p.Ile532Thr
XM_011513725.1:c.1529T>C	XP_011512027.1:p.Ile510Thr
XM_011513726.1:c.1115T>C	XP_011512028.1:p.Ile372Thr
XM_011513727.1:c.1115T>C	XP_011512029.1:p.Ile372Thr
XM_011513728.1:c.1115T>C	XP_011512030.1:p.Ile372Thr
XM_011513729.1:c.1595T>C	XP_011512031.1:p.Ile532Thr
XR_925155.1:n.1659T>C
NM_001317924.1:c.1115T>C	NP_001304853.1:p.Ile372Thr
XM_011513725.2:c.1529T>C	XP_011512027.1:p.Ile510Thr
XM_011513726.3:c.1115T>C	XP_011512028.1:p.Ile372Thr
XM_017008501.1:c.1115T>C	XP_016863990.1:p.Ile372Thr
XR_001741306.1:n.1659T>C
XR_001741307.1:n.1659T>C
XR_001741308.1:n.1659T>C
XR_001741309.1:n.1659T>C
XR_001741310.1:n.1659T>C
XR_001741311.2:n.1508T>C
XR_001741312.1:n.1659T>C
NM_025132.4:c.1595T>C MANE Select	NP_079408.3:p.Ile532Thr
NM_001317924.2:c.1115T>C	NP_001304853.1:p.Ile372Thr