Canonical Allele Identifier: CA356634468

Gene: WDR19

Linked Data

• dbSNP Id: rs1727874795
• gnomAD v4: 4-39205678-C-A
• MyVariant Identifiers: chr4:g.39207298C>A (hg19) ; chr4:g.39205678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205678C>A , CM000666.2:g.39205678C>A	GRCh38
NC_000004.11:g.39207298C>A , CM000666.1:g.39207298C>A	GRCh37
NC_000004.10:g.38883693C>A	NCBI36
NG_031813.1:g.28275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.832C>A MANE Select	ENSP00000382717.3:p.Leu278Ile
ENST00000399820.7:c.832C>A	ENSP00000382717.3:p.Leu278Ile
ENST00000503697.5:c.*300C>A	ENSP00000423706.1:n.*300C>A
ENST00000506503.1:c.832C>A	ENSP00000423491.1:p.Leu278Ile
ENST00000506869.5:c.*413C>A	ENSP00000424319.1:n.*413C>A
ENST00000511729.5:n.41-22880C>A
ENST00000512448.1:n.426C>A
NM_025132.3:c.832C>A	NP_079408.3:p.Leu278Ile
XM_011513724.1:c.832C>A	XP_011512026.1:p.Leu278Ile
XM_011513725.1:c.766C>A	XP_011512027.1:p.Leu256Ile
XM_011513726.1:c.352C>A	XP_011512028.1:p.Leu118Ile
XM_011513727.1:c.352C>A	XP_011512029.1:p.Leu118Ile
XM_011513728.1:c.352C>A	XP_011512030.1:p.Leu118Ile
XM_011513729.1:c.832C>A	XP_011512031.1:p.Leu278Ile
XR_925155.1:n.896C>A
NM_001317924.1:c.352C>A	NP_001304853.1:p.Leu118Ile
XM_011513725.2:c.766C>A	XP_011512027.1:p.Leu256Ile
XM_011513726.3:c.352C>A	XP_011512028.1:p.Leu118Ile
XM_017008501.1:c.352C>A	XP_016863990.1:p.Leu118Ile
XR_001741306.1:n.896C>A
XR_001741307.1:n.896C>A
XR_001741308.1:n.896C>A
XR_001741309.1:n.896C>A
XR_001741310.1:n.896C>A
XR_001741311.2:n.745C>A
XR_001741312.1:n.896C>A
NM_025132.4:c.832C>A MANE Select	NP_079408.3:p.Leu278Ile
NM_001317924.2:c.352C>A	NP_001304853.1:p.Leu118Ile