Canonical Allele Identifier: CA356638829

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1686924
• ClinVar RCV Id: RCV002248396
• dbSNP Id: rs1237821935
• gnomAD v2: 4-39246173-G-T
• gnomAD v4: 4-39244553-G-T
• MyVariant Identifiers: chr4:g.39246173G>T (hg19) ; chr4:g.39244553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244553G>T , CM000666.2:g.39244553G>T	GRCh38
NC_000004.11:g.39246173G>T , CM000666.1:g.39246173G>T	GRCh37
NC_000004.10:g.38922568G>T	NCBI36
NG_031813.1:g.67150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2645+1G>T MANE Select	ENSP00000382717.3:n.2645+1G>T
ENST00000399820.7:c.2645+1G>T	ENSP00000382717.3:n.2645+1G>T
ENST00000506869.5:c.*2226+1G>T	ENSP00000424319.1:n.*2226+1G>T
ENST00000512095.5:n.1643+1G>T
NM_025132.3:c.2645+1G>T	NP_079408.3:n.2645+1G>T
XM_011513724.1:c.2657+1G>T	XP_011512026.1:n.2657+1G>T
XM_011513725.1:c.2591+1G>T	XP_011512027.1:n.2591+1G>T
XM_011513726.1:c.2177+1G>T	XP_011512028.1:n.2177+1G>T
XM_011513727.1:c.2177+1G>T	XP_011512029.1:n.2177+1G>T
XM_011513728.1:c.2165+1G>T	XP_011512030.1:n.2165+1G>T
XM_011513729.1:c.2657+1G>T	XP_011512031.1:n.2657+1G>T
XR_925155.1:n.2721+1G>T
NM_001317924.1:c.2165+1G>T	NP_001304853.1:n.2165+1G>T
XM_011513725.2:c.2591+1G>T	XP_011512027.1:n.2591+1G>T
XM_011513726.3:c.2177+1G>T	XP_011512028.1:n.2177+1G>T
XM_017008501.1:c.2165+1G>T	XP_016863990.1:n.2165+1G>T
XR_001741306.1:n.2721+1G>T
XR_001741307.1:n.2709+1G>T
XR_001741308.1:n.2721+1G>T
XR_001741309.1:n.2709+1G>T
XR_001741310.1:n.2709+1G>T
XR_001741311.2:n.2558+1G>T
NM_025132.4:c.2645+1G>T MANE Select	NP_079408.3:n.2645+1G>T
NM_001317924.2:c.2165+1G>T	NP_001304853.1:n.2165+1G>T