Canonical Allele Identifier: CA438939404
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1616650
ClinVar RCV Id: RCV002084466
dbSNP Id: rs1210144163
gnomAD v2: 4-39207264-A-G
gnomAD v4: 4-39205644-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205644A>G , CM000666.2:g.39205644A>G GRCh38
NC_000004.11:g.39207264A>G , CM000666.1:g.39207264A>G GRCh37
NC_000004.10:g.38883659A>G NCBI36
NG_031813.1:g.28241A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.798A>G MANE Select ENSP00000382717.3:p.Gln266=
ENST00000399820.7:c.798A>G ENSP00000382717.3:p.Gln266=
ENST00000503697.5:c.*266A>G ENSP00000423706.1:n.*266A>G
ENST00000506503.1:c.798A>G ENSP00000423491.1:p.Gln266=
ENST00000506869.5:c.*379A>G ENSP00000424319.1:n.*379A>G
ENST00000511729.5:n.41-22914A>G
ENST00000512448.1:n.392A>G
NM_025132.3:c.798A>G NP_079408.3:p.Gln266=
XM_011513724.1:c.798A>G XP_011512026.1:p.Gln266=
XM_011513725.1:c.732A>G XP_011512027.1:p.Gln244=
XM_011513726.1:c.318A>G XP_011512028.1:p.Gln106=
XM_011513727.1:c.318A>G XP_011512029.1:p.Gln106=
XM_011513728.1:c.318A>G XP_011512030.1:p.Gln106=
XM_011513729.1:c.798A>G XP_011512031.1:p.Gln266=
XR_925155.1:n.862A>G
NM_001317924.1:c.318A>G NP_001304853.1:p.Gln106=
XM_011513725.2:c.732A>G XP_011512027.1:p.Gln244=
XM_011513726.3:c.318A>G XP_011512028.1:p.Gln106=
XM_017008501.1:c.318A>G XP_016863990.1:p.Gln106=
XR_001741306.1:n.862A>G
XR_001741307.1:n.862A>G
XR_001741308.1:n.862A>G
XR_001741309.1:n.862A>G
XR_001741310.1:n.862A>G
XR_001741311.2:n.711A>G
XR_001741312.1:n.862A>G
NM_025132.4:c.798A>G MANE Select NP_079408.3:p.Gln266=
NM_001317924.2:c.318A>G NP_001304853.1:p.Gln106=