Canonical Allele Identifier: CA5205859

Gene: WHRN

Linked Data

• dbSNP Id: rs747084627
• ExAC: 9:117170252 A / C
• gnomAD v2: 9-117170252-A-C
• gnomAD v4: 9-114407972-A-C
• MyVariant Identifiers: chr9:g.117170252A>C (hg19) ; chr9:g.114407972A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1673T>G MANE Select	ENSP00000354623.3:p.Ile558Ser
ENST00000673811.1:n.2397T>G
ENST00000674036.8:c.646T>G
ENST00000674048.1:n.1554T>G
ENST00000265134.10:c.524T>G	ENSP00000265134.6:p.Ile175Ser
ENST00000362057.3:c.1673T>G	ENSP00000354623.3:p.Ile558Ser
ENST00000374059.7:c.620T>G	ENSP00000363172.3:p.Ile207Ser
NM_001083885.2:c.524T>G	NP_001077354.2:p.Ile175Ser
NM_001173425.1:c.1673T>G	NP_001166896.1:p.Ile558Ser
NM_015404.3:c.1673T>G	NP_056219.3:p.Ile558Ser
XM_005251897.3:c.1010T>G	XP_005251954.2:p.Ile337Ser
XM_011518484.1:c.1706T>G	XP_011516786.1:p.Ile569Ser
XM_011518485.1:c.1706T>G	XP_011516787.1:p.Ile569Ser
XM_011518486.1:c.1706T>G	XP_011516788.1:p.Ile569Ser
XM_011518487.1:c.1580T>G	XP_011516789.1:p.Ile527Ser
XM_011518488.1:c.1463T>G	XP_011516790.1:p.Ile488Ser
XM_011518492.1:c.*58T>G	XP_011516794.1:n.*58T>G
XM_011518495.1:c.383T>G	XP_011516797.1:p.Ile128Ser
XR_929747.1:n.2610T>G
XR_929748.1:n.2508T>G
XR_929750.1:n.2609T>G
XR_929751.1:n.2516T>G
XR_929757.1:n.2483T>G
NM_001346890.1:c.620T>G	NP_001333819.1:p.Ile207Ser
XM_011518486.2:c.1706T>G	XP_011516788.1:p.Ile569Ser
XM_011518487.2:c.1580T>G	XP_011516789.1:p.Ile527Ser
XM_011518488.2:c.1463T>G	XP_011516790.1:p.Ile488Ser
XM_011518492.2:c.*58T>G	XP_011516794.1:n.*58T>G
XR_929747.2:n.1921T>G
XR_929748.2:n.1819T>G
XR_929750.3:n.1920T>G
XR_929757.2:n.1794T>G
NM_015404.4:c.1673T>G MANE Select	NP_056219.3:p.Ile558Ser
NM_001173425.2:c.1673T>G	NP_001166896.1:p.Ile558Ser
NM_001083885.3:c.524T>G	NP_001077354.2:p.Ile175Ser