Canonical Allele Identifier: CA374621153

Gene: WHRN

Linked Data

• gnomAD v4: 9-114407972-A-T
• MyVariant Identifiers: chr9:g.117170252A>T (hg19) ; chr9:g.114407972A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407972A>T , CM000671.2:g.114407972A>T	GRCh38
NC_000009.11:g.117170252A>T , CM000671.1:g.117170252A>T	GRCh37
NC_000009.10:g.116210073A>T	NCBI36
NG_016700.1:g.102485T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1673T>A MANE Select	ENSP00000354623.3:p.Ile558Asn
ENST00000673811.1:n.2397T>A
ENST00000674036.8:c.646T>A
ENST00000674048.1:n.1554T>A
ENST00000265134.10:c.524T>A	ENSP00000265134.6:p.Ile175Asn
ENST00000362057.3:c.1673T>A	ENSP00000354623.3:p.Ile558Asn
ENST00000374059.7:c.620T>A	ENSP00000363172.3:p.Ile207Asn
NM_001083885.2:c.524T>A	NP_001077354.2:p.Ile175Asn
NM_001173425.1:c.1673T>A	NP_001166896.1:p.Ile558Asn
NM_015404.3:c.1673T>A	NP_056219.3:p.Ile558Asn
XM_005251897.3:c.1010T>A	XP_005251954.2:p.Ile337Asn
XM_011518484.1:c.1706T>A	XP_011516786.1:p.Ile569Asn
XM_011518485.1:c.1706T>A	XP_011516787.1:p.Ile569Asn
XM_011518486.1:c.1706T>A	XP_011516788.1:p.Ile569Asn
XM_011518487.1:c.1580T>A	XP_011516789.1:p.Ile527Asn
XM_011518488.1:c.1463T>A	XP_011516790.1:p.Ile488Asn
XM_011518492.1:c.*58T>A	XP_011516794.1:n.*58T>A
XM_011518495.1:c.383T>A	XP_011516797.1:p.Ile128Asn
XR_929747.1:n.2610T>A
XR_929748.1:n.2508T>A
XR_929750.1:n.2609T>A
XR_929751.1:n.2516T>A
XR_929757.1:n.2483T>A
NM_001346890.1:c.620T>A	NP_001333819.1:p.Ile207Asn
XM_011518486.2:c.1706T>A	XP_011516788.1:p.Ile569Asn
XM_011518487.2:c.1580T>A	XP_011516789.1:p.Ile527Asn
XM_011518488.2:c.1463T>A	XP_011516790.1:p.Ile488Asn
XM_011518492.2:c.*58T>A	XP_011516794.1:n.*58T>A
XR_929747.2:n.1921T>A
XR_929748.2:n.1819T>A
XR_929750.3:n.1920T>A
XR_929757.2:n.1794T>A
NM_015404.4:c.1673T>A MANE Select	NP_056219.3:p.Ile558Asn
NM_001173425.2:c.1673T>A	NP_001166896.1:p.Ile558Asn
NM_001083885.3:c.524T>A	NP_001077354.2:p.Ile175Asn