Canonical Allele Identifier: CA374621154

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117170253T>A (hg19) ; chr9:g.114407973T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407973T>A , CM000671.2:g.114407973T>A	GRCh38
NC_000009.11:g.117170253T>A , CM000671.1:g.117170253T>A	GRCh37
NC_000009.10:g.116210074T>A	NCBI36
NG_016700.1:g.102484A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1672A>T MANE Select	ENSP00000354623.3:p.Ile558Phe
ENST00000673811.1:n.2396A>T
ENST00000674036.8:c.645A>T
ENST00000674048.1:n.1553A>T
ENST00000265134.10:c.523A>T	ENSP00000265134.6:p.Ile175Phe
ENST00000362057.3:c.1672A>T	ENSP00000354623.3:p.Ile558Phe
ENST00000374059.7:c.619A>T	ENSP00000363172.3:p.Ile207Phe
NM_001083885.2:c.523A>T	NP_001077354.2:p.Ile175Phe
NM_001173425.1:c.1672A>T	NP_001166896.1:p.Ile558Phe
NM_015404.3:c.1672A>T	NP_056219.3:p.Ile558Phe
XM_005251897.3:c.1009A>T	XP_005251954.2:p.Ile337Phe
XM_011518484.1:c.1705A>T	XP_011516786.1:p.Ile569Phe
XM_011518485.1:c.1705A>T	XP_011516787.1:p.Ile569Phe
XM_011518486.1:c.1705A>T	XP_011516788.1:p.Ile569Phe
XM_011518487.1:c.1579A>T	XP_011516789.1:p.Ile527Phe
XM_011518488.1:c.1462A>T	XP_011516790.1:p.Ile488Phe
XM_011518492.1:c.*57A>T	XP_011516794.1:n.*57A>T
XM_011518495.1:c.382A>T	XP_011516797.1:p.Ile128Phe
XR_929747.1:n.2609A>T
XR_929748.1:n.2507A>T
XR_929750.1:n.2608A>T
XR_929751.1:n.2515A>T
XR_929757.1:n.2482A>T
NM_001346890.1:c.619A>T	NP_001333819.1:p.Ile207Phe
XM_011518486.2:c.1705A>T	XP_011516788.1:p.Ile569Phe
XM_011518487.2:c.1579A>T	XP_011516789.1:p.Ile527Phe
XM_011518488.2:c.1462A>T	XP_011516790.1:p.Ile488Phe
XM_011518492.2:c.*57A>T	XP_011516794.1:n.*57A>T
XR_929747.2:n.1920A>T
XR_929748.2:n.1818A>T
XR_929750.3:n.1919A>T
XR_929757.2:n.1793A>T
NM_015404.4:c.1672A>T MANE Select	NP_056219.3:p.Ile558Phe
NM_001173425.2:c.1672A>T	NP_001166896.1:p.Ile558Phe
NM_001083885.3:c.523A>T	NP_001077354.2:p.Ile175Phe