Canonical Allele Identifier: CA198648756

Gene: WHRN

Linked Data

• ClinVar Variation Id: 1375663
• ClinVar RCV Id: RCV001883407
• dbSNP Id: rs920350403
• gnomAD v3: 9-114402822-C-T
• gnomAD v4: 9-114402822-C-T
• MyVariant Identifiers: chr9:g.117165102C>T (hg19) ; chr9:g.114402822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402822C>T , CM000671.2:g.114402822C>T	GRCh38
NC_000009.11:g.117165102C>T , CM000671.1:g.117165102C>T	GRCh37
NC_000009.10:g.116204923C>T	NCBI36
NG_016700.1:g.107635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.1000G>A	ENSP00000514396.1:p.Glu334Lys
ENST00000362057.4:c.2656G>A MANE Select	ENSP00000354623.3:p.Glu886Lys
ENST00000674036.8:c.1629G>A
ENST00000674048.1:n.2537G>A
ENST00000265134.10:c.1507G>A	ENSP00000265134.6:p.Glu503Lys
ENST00000362057.3:c.2656G>A	ENSP00000354623.3:p.Glu886Lys
ENST00000374059.7:c.1603G>A	ENSP00000363172.3:p.Glu535Lys
NM_001083885.2:c.1507G>A	NP_001077354.2:p.Glu503Lys
NM_001173425.1:c.2653G>A	NP_001166896.1:p.Glu885Lys
NM_015404.3:c.2656G>A	NP_056219.3:p.Glu886Lys
XM_005251897.3:c.1993G>A	XP_005251954.2:p.Glu665Lys
XM_011518484.1:c.2689G>A	XP_011516786.1:p.Glu897Lys
XM_011518485.1:c.2689G>A	XP_011516787.1:p.Glu897Lys
XM_011518486.1:c.2686G>A	XP_011516788.1:p.Glu896Lys
XM_011518487.1:c.2563G>A	XP_011516789.1:p.Glu855Lys
XM_011518488.1:c.2446G>A	XP_011516790.1:p.Glu816Lys
XM_011518495.1:c.1366G>A	XP_011516797.1:p.Glu456Lys
NM_001346890.1:c.1603G>A	NP_001333819.1:p.Glu535Lys
XM_011518486.2:c.2686G>A	XP_011516788.1:p.Glu896Lys
XM_011518487.2:c.2563G>A	XP_011516789.1:p.Glu855Lys
XM_011518488.2:c.2446G>A	XP_011516790.1:p.Glu816Lys
NM_015404.4:c.2656G>A MANE Select	NP_056219.3:p.Glu886Lys
NM_001173425.2:c.2653G>A	NP_001166896.1:p.Glu885Lys
NM_001083885.3:c.1507G>A	NP_001077354.2:p.Glu503Lys