Canonical Allele Identifier: CA356633823

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1022134
• ClinVar RCV Id: RCV001322005
• dbSNP Id: rs1727819329
• MyVariant Identifiers: chr4:g.39206806T>G (hg19) ; chr4:g.39205186T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205186T>G , CM000666.2:g.39205186T>G	GRCh38
NC_000004.11:g.39206806T>G , CM000666.1:g.39206806T>G	GRCh37
NC_000004.10:g.38883201T>G	NCBI36
NG_031813.1:g.27783T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.636T>G MANE Select	ENSP00000382717.3:p.Phe212Leu
ENST00000399820.7:c.636T>G	ENSP00000382717.3:p.Phe212Leu
ENST00000503697.5:c.*104T>G	ENSP00000423706.1:n.*104T>G
ENST00000505055.5:c.*217T>G	ENSP00000425949.1:n.*217T>G
ENST00000506503.1:c.636T>G	ENSP00000423491.1:p.Phe212Leu
ENST00000506869.5:c.*217T>G	ENSP00000424319.1:n.*217T>G
ENST00000511729.5:n.40+22623T>G
ENST00000512448.1:n.230T>G
NM_025132.3:c.636T>G	NP_079408.3:p.Phe212Leu
XM_011513724.1:c.636T>G	XP_011512026.1:p.Phe212Leu
XM_011513725.1:c.570T>G	XP_011512027.1:p.Phe190Leu
XM_011513726.1:c.156T>G	XP_011512028.1:p.Phe52Leu
XM_011513727.1:c.156T>G	XP_011512029.1:p.Phe52Leu
XM_011513728.1:c.156T>G	XP_011512030.1:p.Phe52Leu
XM_011513729.1:c.636T>G	XP_011512031.1:p.Phe212Leu
XR_925155.1:n.700T>G
NM_001317924.1:c.156T>G	NP_001304853.1:p.Phe52Leu
XM_011513725.2:c.570T>G	XP_011512027.1:p.Phe190Leu
XM_011513726.3:c.156T>G	XP_011512028.1:p.Phe52Leu
XM_017008501.1:c.156T>G	XP_016863990.1:p.Phe52Leu
XR_001741306.1:n.700T>G
XR_001741307.1:n.700T>G
XR_001741308.1:n.700T>G
XR_001741309.1:n.700T>G
XR_001741310.1:n.700T>G
XR_001741311.2:n.549T>G
XR_001741312.1:n.700T>G
NM_025132.4:c.636T>G MANE Select	NP_079408.3:p.Phe212Leu
NM_001317924.2:c.156T>G	NP_001304853.1:p.Phe52Leu