Canonical Allele Identifier: CA136916

Gene: WHRN

Linked Data

• ClinVar Variation Id: 45674
• ClinVar RCV Id: RCV000038892 ; RCV000334982 ; RCV000391015 ; RCV001095334 ; RCV001514504
• dbSNP Id: rs2274158
• ExAC: 9:117166206 G / T
• gnomAD v2: 9-117166206-G-T
• gnomAD v3: 9-114403926-G-T
• gnomAD v4: 9-114403926-G-T
• COSMIC: COSM3774349 ; COSM3774350
• MyVariant Identifiers: chr9:g.117166206G>T (hg19) ; chr9:g.114403926G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403926G>T , CM000671.2:g.114403926G>T	GRCh38
NC_000009.11:g.117166206G>T , CM000671.1:g.117166206G>T	GRCh37
NC_000009.10:g.116206027G>T	NCBI36
NG_016700.1:g.106531C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.732C>A	ENSP00000514396.1:p.Asn244Lys
ENST00000362057.4:c.2388C>A MANE Select	ENSP00000354623.3:p.Asn796Lys
ENST00000674036.8:c.1361C>A
ENST00000674048.1:n.2269C>A
ENST00000265134.10:c.1239C>A	ENSP00000265134.6:p.Asn413Lys
ENST00000362057.3:c.2388C>A	ENSP00000354623.3:p.Asn796Lys
ENST00000374059.7:c.1335C>A	ENSP00000363172.3:p.Asn445Lys
NM_001083885.2:c.1239C>A	NP_001077354.2:p.Asn413Lys
NM_001173425.1:c.2385C>A	NP_001166896.1:p.Asn795Lys
NM_015404.3:c.2388C>A	NP_056219.3:p.Asn796Lys
XM_005251897.3:c.1725C>A	XP_005251954.2:p.Asn575Lys
XM_011518484.1:c.2421C>A	XP_011516786.1:p.Asn807Lys
XM_011518485.1:c.2421C>A	XP_011516787.1:p.Asn807Lys
XM_011518486.1:c.2418C>A	XP_011516788.1:p.Asn806Lys
XM_011518487.1:c.2295C>A	XP_011516789.1:p.Asn765Lys
XM_011518488.1:c.2178C>A	XP_011516790.1:p.Asn726Lys
XM_011518495.1:c.1098C>A	XP_011516797.1:p.Asn366Lys
XR_929747.1:n.3325C>A
XR_929748.1:n.3223C>A
NM_001346890.1:c.1335C>A	NP_001333819.1:p.Asn445Lys
XM_011518486.2:c.2418C>A	XP_011516788.1:p.Asn806Lys
XM_011518487.2:c.2295C>A	XP_011516789.1:p.Asn765Lys
XM_011518488.2:c.2178C>A	XP_011516790.1:p.Asn726Lys
XR_929747.2:n.2636C>A
XR_929748.2:n.2534C>A
NM_015404.4:c.2388C>A MANE Select	NP_056219.3:p.Asn796Lys
NM_001173425.2:c.2385C>A	NP_001166896.1:p.Asn795Lys
NM_001083885.3:c.1239C>A	NP_001077354.2:p.Asn413Lys