Canonical Allele Identifier: CA235261

Gene: WDR19

Linked Data

• ClinVar Variation Id: 167842
• ClinVar RCV Id: RCV000154139 ; RCV002056049
• dbSNP Id: rs727504221
• gnomAD v4: 4-39228553-T-C
• MyVariant Identifiers: chr4:g.39230173T>C (hg19) ; chr4:g.39228553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39228553T>C , CM000666.2:g.39228553T>C	GRCh38
NC_000004.11:g.39230173T>C , CM000666.1:g.39230173T>C	GRCh37
NC_000004.10:g.38906568T>C	NCBI36
NG_031813.1:g.51150T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.1845T>C MANE Select	ENSP00000382717.3:p.Asn615=
ENST00000399820.7:c.1845T>C	ENSP00000382717.3:p.Asn615=
ENST00000506869.5:c.*1426T>C	ENSP00000424319.1:n.*1426T>C
ENST00000507228.1:c.23T>C
ENST00000511729.5:n.41-5T>C
ENST00000512095.5:n.843T>C
NM_025132.3:c.1845T>C	NP_079408.3:p.Asn615=
XM_011513724.1:c.1845T>C	XP_011512026.1:p.Asn615=
XM_011513725.1:c.1779T>C	XP_011512027.1:p.Asn593=
XM_011513726.1:c.1365T>C	XP_011512028.1:p.Asn455=
XM_011513727.1:c.1365T>C	XP_011512029.1:p.Asn455=
XM_011513728.1:c.1365T>C	XP_011512030.1:p.Asn455=
XM_011513729.1:c.1845T>C	XP_011512031.1:p.Asn615=
XR_925155.1:n.1909T>C
NM_001317924.1:c.1365T>C	NP_001304853.1:p.Asn455=
XM_011513725.2:c.1779T>C	XP_011512027.1:p.Asn593=
XM_011513726.3:c.1365T>C	XP_011512028.1:p.Asn455=
XM_017008501.1:c.1365T>C	XP_016863990.1:p.Asn455=
XR_001741306.1:n.1909T>C
XR_001741307.1:n.1909T>C
XR_001741308.1:n.1909T>C
XR_001741309.1:n.1909T>C
XR_001741310.1:n.1909T>C
XR_001741311.2:n.1758T>C
XR_001741312.1:n.1909T>C
NM_025132.4:c.1845T>C MANE Select	NP_079408.3:p.Asn615=
NM_001317924.2:c.1365T>C	NP_001304853.1:p.Asn455=