Canonical Allele Identifier: CA5206317

Gene: WHRN

Linked Data

• ClinVar Variation Id: 1431079
• ClinVar RCV Id: RCV001948509 ; RCV002560709
• dbSNP Id: rs766238813
• ExAC: 9:117266761 G / T
• gnomAD v2: 9-117266761-G-T
• gnomAD v3: 9-114504481-G-T
• gnomAD v4: 9-114504481-G-T
• MyVariant Identifiers: chr9:g.117266761G>T (hg19) ; chr9:g.114504481G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114504481G>T , CM000671.2:g.114504481G>T	GRCh38
NC_000009.11:g.117266761G>T , CM000671.1:g.117266761G>T	GRCh37
NC_000009.10:g.116306582G>T	NCBI36
NG_016700.1:g.5976C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699486.1:c.45C>A	ENSP00000514397.1:p.Asp15Glu
ENST00000362057.4:c.321C>A MANE Select	ENSP00000354623.3:p.Asp107Glu
ENST00000673811.1:n.69C>A
ENST00000362057.3:c.321C>A	ENSP00000354623.3:p.Asp107Glu
ENST00000374057.3:c.321C>A	ENSP00000363170.3:p.Asp107Glu
NM_001173425.1:c.321C>A	NP_001166896.1:p.Asp107Glu
NM_015404.3:c.321C>A	NP_056219.3:p.Asp107Glu
XM_005251897.3:c.321C>A	XP_005251954.2:p.Asp107Glu
XM_011518484.1:c.321C>A	XP_011516786.1:p.Asp107Glu
XM_011518485.1:c.321C>A	XP_011516787.1:p.Asp107Glu
XM_011518486.1:c.321C>A	XP_011516788.1:p.Asp107Glu
XM_011518487.1:c.321C>A	XP_011516789.1:p.Asp107Glu
XM_011518488.1:c.321C>A	XP_011516790.1:p.Asp107Glu
XM_011518489.1:c.321C>A	XP_011516791.1:p.Asp107Glu
XM_011518490.1:c.321C>A	XP_011516792.1:p.Asp107Glu
XM_011518491.1:c.321C>A	XP_011516793.1:p.Asp107Glu
XM_011518492.1:c.321C>A	XP_011516794.1:p.Asp107Glu
XM_011518493.1:c.321C>A	XP_011516795.1:p.Asp107Glu
XM_011518494.1:c.321C>A	XP_011516796.1:p.Asp107Glu
XR_929747.1:n.1029C>A
XR_929748.1:n.1029C>A
XR_929749.1:n.1029C>A
XR_929750.1:n.1029C>A
XR_929751.1:n.1029C>A
XR_929752.1:n.1029C>A
XR_929753.1:n.1029C>A
XR_929754.1:n.1029C>A
XR_929755.1:n.1029C>A
XR_929756.1:n.1029C>A
XR_929757.1:n.1029C>A
XM_011518486.2:c.321C>A	XP_011516788.1:p.Asp107Glu
XM_011518487.2:c.321C>A	XP_011516789.1:p.Asp107Glu
XM_011518488.2:c.321C>A	XP_011516790.1:p.Asp107Glu
XM_011518489.3:c.321C>A	XP_011516791.1:p.Asp107Glu
XM_011518491.3:c.321C>A	XP_011516793.1:p.Asp107Glu
XM_011518492.2:c.321C>A	XP_011516794.1:p.Asp107Glu
XM_011518494.3:c.321C>A	XP_011516796.1:p.Asp107Glu
XR_929747.2:n.340C>A
XR_929748.2:n.340C>A
XR_929749.2:n.340C>A
XR_929750.3:n.340C>A
XR_929752.2:n.340C>A
XR_929753.3:n.340C>A
XR_929754.2:n.340C>A
XR_929755.3:n.340C>A
XR_929756.2:n.340C>A
XR_929757.2:n.340C>A
NM_015404.4:c.321C>A MANE Select	NP_056219.3:p.Asp107Glu
NM_001173425.2:c.321C>A	NP_001166896.1:p.Asp107Glu