Canonical Allele Identifier: CA466782141

Gene: WHRN

Linked Data

• ClinVar Variation Id: 1608301
• ClinVar RCV Id: RCV002147340
• dbSNP Id: rs2132222332
• gnomAD v4: 9-114407983-G-T
• MyVariant Identifiers: chr9:g.117170263G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407983G>T , CM000671.2:g.114407983G>T	GRCh38
NC_000009.11:g.117170263G>T , CM000671.1:g.117170263G>T	GRCh37
NC_000009.10:g.116210084G>T	NCBI36
NG_016700.1:g.102474C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1662C>A MANE Select	ENSP00000354623.3:p.Val554=
ENST00000673811.1:n.2386C>A
ENST00000674036.8:c.635C>A
ENST00000674048.1:n.1543C>A
ENST00000265134.10:c.513C>A	ENSP00000265134.6:p.Val171=
ENST00000362057.3:c.1662C>A	ENSP00000354623.3:p.Val554=
ENST00000374059.7:c.609C>A	ENSP00000363172.3:p.Val203=
NM_001083885.2:c.513C>A	NP_001077354.2:p.Val171=
NM_001173425.1:c.1662C>A	NP_001166896.1:p.Val554=
NM_015404.3:c.1662C>A	NP_056219.3:p.Val554=
XM_005251897.3:c.999C>A	XP_005251954.2:p.Val333=
XM_011518484.1:c.1695C>A	XP_011516786.1:p.Val565=
XM_011518485.1:c.1695C>A	XP_011516787.1:p.Val565=
XM_011518486.1:c.1695C>A	XP_011516788.1:p.Val565=
XM_011518487.1:c.1569C>A	XP_011516789.1:p.Val523=
XM_011518488.1:c.1452C>A	XP_011516790.1:p.Val484=
XM_011518492.1:c.*47C>A	XP_011516794.1:n.*47C>A
XM_011518495.1:c.372C>A	XP_011516797.1:p.Val124=
XR_929747.1:n.2599C>A
XR_929748.1:n.2497C>A
XR_929750.1:n.2598C>A
XR_929751.1:n.2505C>A
XR_929757.1:n.2472C>A
NM_001346890.1:c.609C>A	NP_001333819.1:p.Val203=
XM_011518486.2:c.1695C>A	XP_011516788.1:p.Val565=
XM_011518487.2:c.1569C>A	XP_011516789.1:p.Val523=
XM_011518488.2:c.1452C>A	XP_011516790.1:p.Val484=
XM_011518492.2:c.*47C>A	XP_011516794.1:n.*47C>A
XR_929747.2:n.1910C>A
XR_929748.2:n.1808C>A
XR_929750.3:n.1909C>A
XR_929757.2:n.1783C>A
NM_015404.4:c.1662C>A MANE Select	NP_056219.3:p.Val554=
NM_001173425.2:c.1662C>A	NP_001166896.1:p.Val554=
NM_001083885.3:c.513C>A	NP_001077354.2:p.Val171=