Canonical Allele Identifier: CA356634247

Gene: WDR19

Linked Data

• ClinVar Variation Id: 2011941
• ClinVar RCV Id: RCV002838786
• MyVariant Identifiers: chr4:g.39207197G>C (hg19) ; chr4:g.39205577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205577G>C , CM000666.2:g.39205577G>C	GRCh38
NC_000004.11:g.39207197G>C , CM000666.1:g.39207197G>C	GRCh37
NC_000004.10:g.38883592G>C	NCBI36
NG_031813.1:g.28174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.731G>C MANE Select	ENSP00000382717.3:p.Arg244Pro
ENST00000399820.7:c.731G>C	ENSP00000382717.3:p.Arg244Pro
ENST00000503697.5:c.*199G>C	ENSP00000423706.1:n.*199G>C
ENST00000506503.1:c.731G>C	ENSP00000423491.1:p.Arg244Pro
ENST00000506869.5:c.*312G>C	ENSP00000424319.1:n.*312G>C
ENST00000511729.5:n.41-22981G>C
ENST00000512448.1:n.325G>C
NM_025132.3:c.731G>C	NP_079408.3:p.Arg244Pro
XM_011513724.1:c.731G>C	XP_011512026.1:p.Arg244Pro
XM_011513725.1:c.665G>C	XP_011512027.1:p.Arg222Pro
XM_011513726.1:c.251G>C	XP_011512028.1:p.Arg84Pro
XM_011513727.1:c.251G>C	XP_011512029.1:p.Arg84Pro
XM_011513728.1:c.251G>C	XP_011512030.1:p.Arg84Pro
XM_011513729.1:c.731G>C	XP_011512031.1:p.Arg244Pro
XR_925155.1:n.795G>C
NM_001317924.1:c.251G>C	NP_001304853.1:p.Arg84Pro
XM_011513725.2:c.665G>C	XP_011512027.1:p.Arg222Pro
XM_011513726.3:c.251G>C	XP_011512028.1:p.Arg84Pro
XM_017008501.1:c.251G>C	XP_016863990.1:p.Arg84Pro
XR_001741306.1:n.795G>C
XR_001741307.1:n.795G>C
XR_001741308.1:n.795G>C
XR_001741309.1:n.795G>C
XR_001741310.1:n.795G>C
XR_001741311.2:n.644G>C
XR_001741312.1:n.795G>C
NM_025132.4:c.731G>C MANE Select	NP_079408.3:p.Arg244Pro
NM_001317924.2:c.251G>C	NP_001304853.1:p.Arg84Pro