Canonical Allele Identifier: CA151408

Gene: WDR19

Linked Data

• ClinVar Variation Id: 127156
• ClinVar RCV Id: RCV000115012
• dbSNP Id: rs587777350
• gnomAD v4: 4-39205232-C-T
• MyVariant Identifiers: chr4:g.39206852C>T (hg19) ; chr4:g.39205232C>T (hg38)
• PubMed: PMID:23559409

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205232C>T , CM000666.2:g.39205232C>T	GRCh38
NC_000004.11:g.39206852C>T , CM000666.1:g.39206852C>T	GRCh37
NC_000004.10:g.38883247C>T	NCBI36
NG_031813.1:g.27829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.682C>T MANE Select	ENSP00000382717.3:p.Gln228Ter
ENST00000399820.7:c.682C>T	ENSP00000382717.3:p.Gln228Ter
ENST00000503697.5:c.*150C>T	ENSP00000423706.1:n.*150C>T
ENST00000505055.5:c.*263C>T	ENSP00000425949.1:n.*263C>T
ENST00000506503.1:c.682C>T	ENSP00000423491.1:p.Gln228Ter
ENST00000506869.5:c.*263C>T	ENSP00000424319.1:n.*263C>T
ENST00000511729.5:n.40+22669C>T
ENST00000512448.1:n.276C>T
NM_025132.3:c.682C>T	NP_079408.3:p.Gln228Ter
XM_011513724.1:c.682C>T	XP_011512026.1:p.Gln228Ter
XM_011513725.1:c.616C>T	XP_011512027.1:p.Gln206Ter
XM_011513726.1:c.202C>T	XP_011512028.1:p.Gln68Ter
XM_011513727.1:c.202C>T	XP_011512029.1:p.Gln68Ter
XM_011513728.1:c.202C>T	XP_011512030.1:p.Gln68Ter
XM_011513729.1:c.682C>T	XP_011512031.1:p.Gln228Ter
XR_925155.1:n.746C>T
NM_001317924.1:c.202C>T	NP_001304853.1:p.Gln68Ter
XM_011513725.2:c.616C>T	XP_011512027.1:p.Gln206Ter
XM_011513726.3:c.202C>T	XP_011512028.1:p.Gln68Ter
XM_017008501.1:c.202C>T	XP_016863990.1:p.Gln68Ter
XR_001741306.1:n.746C>T
XR_001741307.1:n.746C>T
XR_001741308.1:n.746C>T
XR_001741309.1:n.746C>T
XR_001741310.1:n.746C>T
XR_001741311.2:n.595C>T
XR_001741312.1:n.746C>T
NM_025132.4:c.682C>T MANE Select	NP_079408.3:p.Gln228Ter
NM_001317924.2:c.202C>T	NP_001304853.1:p.Gln68Ter