Canonical Allele Identifier: CA236213

Gene: WDR19

Linked Data

• ClinVar Variation Id: 191190
• ClinVar RCV Id: RCV000171376 ; RCV002515238 ; RCV003989482
• dbSNP Id: rs751386429
• gnomAD v4: 4-39253193-G-T
• MyVariant Identifiers: chr4:g.39254813G>T (hg19) ; chr4:g.39253193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39253193G>T , CM000666.2:g.39253193G>T	GRCh38
NC_000004.11:g.39254813G>T , CM000666.1:g.39254813G>T	GRCh37
NC_000004.10:g.38931208G>T	NCBI36
NG_031813.1:g.75790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2777G>T MANE Select	ENSP00000382717.3:p.Ser926Ile
ENST00000399820.7:c.2777G>T	ENSP00000382717.3:p.Ser926Ile
ENST00000506869.5:c.*2358G>T	ENSP00000424319.1:n.*2358G>T
ENST00000512095.5:n.1775G>T
NM_025132.3:c.2777G>T	NP_079408.3:p.Ser926Ile
XM_011513724.1:c.2789G>T	XP_011512026.1:p.Ser930Ile
XM_011513725.1:c.2723G>T	XP_011512027.1:p.Ser908Ile
XM_011513726.1:c.2309G>T	XP_011512028.1:p.Ser770Ile
XM_011513727.1:c.2309G>T	XP_011512029.1:p.Ser770Ile
XM_011513728.1:c.2297G>T	XP_011512030.1:p.Ser766Ile
XM_011513729.1:c.2789G>T	XP_011512031.1:p.Ser930Ile
XR_925155.1:n.2853G>T
NM_001317924.1:c.2297G>T	NP_001304853.1:p.Ser766Ile
XM_011513725.2:c.2723G>T	XP_011512027.1:p.Ser908Ile
XM_011513726.3:c.2309G>T	XP_011512028.1:p.Ser770Ile
XM_017008501.1:c.2297G>T	XP_016863990.1:p.Ser766Ile
XR_001741306.1:n.2853G>T
XR_001741307.1:n.2841G>T
XR_001741308.1:n.2853G>T
XR_001741309.1:n.2841G>T
XR_001741310.1:n.2841G>T
XR_001741311.2:n.2690G>T
NM_025132.4:c.2777G>T MANE Select	NP_079408.3:p.Ser926Ile
NM_001317924.2:c.2297G>T	NP_001304853.1:p.Ser766Ile