Canonical Allele Identifier: CA151406

Gene: WDR19

Linked Data

• ClinVar Variation Id: 127155
• ClinVar RCV Id: RCV000115011 ; RCV001281114 ; RCV001753491 ; RCV001854543
• dbSNP Id: rs587777349
• ExAC: 4:39219723 G / C
• gnomAD v2: 4-39219723-G-C
• gnomAD v3: 4-39218103-G-C
• gnomAD v4: 4-39218103-G-C
• MyVariant Identifiers: chr4:g.39219723G>C (hg19) ; chr4:g.39218103G>C (hg38)
• PubMed: PMID:23559409 ; PMID:23683095

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39218103G>C , CM000666.2:g.39218103G>C	GRCh38
NC_000004.11:g.39219723G>C , CM000666.1:g.39219723G>C	GRCh37
NC_000004.10:g.38896118G>C	NCBI36
NG_031813.1:g.40700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.1477G>C MANE Select	ENSP00000382717.3:p.Asp493His
ENST00000399820.7:c.1477G>C	ENSP00000382717.3:p.Asp493His
ENST00000506503.1:c.*27G>C	ENSP00000423491.1:n.*27G>C
ENST00000506869.5:c.*1058G>C	ENSP00000424319.1:n.*1058G>C
ENST00000511729.5:n.41-10455G>C
ENST00000512095.5:n.475G>C
NM_025132.3:c.1477G>C	NP_079408.3:p.Asp493His
XM_011513724.1:c.1477G>C	XP_011512026.1:p.Asp493His
XM_011513725.1:c.1411G>C	XP_011512027.1:p.Asp471His
XM_011513726.1:c.997G>C	XP_011512028.1:p.Asp333His
XM_011513727.1:c.997G>C	XP_011512029.1:p.Asp333His
XM_011513728.1:c.997G>C	XP_011512030.1:p.Asp333His
XM_011513729.1:c.1477G>C	XP_011512031.1:p.Asp493His
XR_925155.1:n.1541G>C
NM_001317924.1:c.997G>C	NP_001304853.1:p.Asp333His
XM_011513725.2:c.1411G>C	XP_011512027.1:p.Asp471His
XM_011513726.3:c.997G>C	XP_011512028.1:p.Asp333His
XM_017008501.1:c.997G>C	XP_016863990.1:p.Asp333His
XR_001741306.1:n.1541G>C
XR_001741307.1:n.1541G>C
XR_001741308.1:n.1541G>C
XR_001741309.1:n.1541G>C
XR_001741310.1:n.1541G>C
XR_001741311.2:n.1390G>C
XR_001741312.1:n.1541G>C
NM_025132.4:c.1477G>C MANE Select	NP_079408.3:p.Asp493His
NM_001317924.2:c.997G>C	NP_001304853.1:p.Asp333His