Canonical Allele Identifier: CA129407
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 30705
ClinVar RCV Id: RCV000023683
dbSNP Id: rs387906982
gnomAD v4: 4-39185739-T-C
MyVariant Identifiers: chr4:g.39187359T>C (hg19) chr4:g.39185739T>C (hg38)
PubMed: PMID:19430947 PMID:22019273
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39185739T>C , CM000666.2:g.39185739T>C GRCh38
NC_000004.11:g.39187359T>C , CM000666.1:g.39187359T>C GRCh37
NC_000004.10:g.38863754T>C NCBI36
NG_031813.1:g.8336T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399820.8:c.20T>C MANE Select ENSP00000382717.3:p.Leu7Pro
ENST00000399820.7:c.20T>C ENSP00000382717.3:p.Leu7Pro
ENST00000502389.1:n.47T>C
ENST00000503697.5:c.20T>C ENSP00000423706.1:p.Leu7Pro
ENST00000505055.5:c.20T>C ENSP00000425949.1:p.Leu7Pro
ENST00000506503.1:c.20T>C ENSP00000423491.1:p.Leu7Pro
ENST00000506869.5:c.20T>C ENSP00000424319.1:p.Leu7Pro
ENST00000509560.5:c.-79-800T>C ENSP00000426918.1:n.-79-800T>C
ENST00000511729.5:n.40+3176T>C
ENST00000512112.5:c.-266-800T>C ENSP00000421888.1:n.-266-800T>C
NM_025132.3:c.20T>C NP_079408.3:p.Leu7Pro
XM_011513724.1:c.20T>C XP_011512026.1:p.Leu7Pro
XM_011513725.1:c.20T>C XP_011512027.1:p.Leu7Pro
XM_011513726.1:c.-345T>C XP_011512028.1:n.-345T>C
XM_011513727.1:c.-279T>C XP_011512029.1:n.-279T>C
XM_011513728.1:c.-345T>C XP_011512030.1:n.-345T>C
XM_011513729.1:c.20T>C XP_011512031.1:p.Leu7Pro
XR_925155.1:n.84T>C
NM_001317924.1:c.-345T>C NP_001304853.1:n.-345T>C
XM_011513725.2:c.20T>C XP_011512027.1:p.Leu7Pro
XM_011513726.3:c.-345T>C XP_011512028.1:n.-345T>C
XM_017008501.1:c.-279T>C XP_016863990.1:n.-279T>C
XR_001741306.1:n.84T>C
XR_001741307.1:n.84T>C
XR_001741308.1:n.84T>C
XR_001741309.1:n.84T>C
XR_001741310.1:n.84T>C
XR_001741311.2:n.49T>C
XR_001741312.1:n.84T>C
NM_025132.4:c.20T>C MANE Select NP_079408.3:p.Leu7Pro
NM_001317924.2:c.-345T>C NP_001304853.1:n.-345T>C
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