Canonical Allele Identifier: CA175638

Gene: WHRN

Linked Data

• ClinVar Variation Id: 163048
• ClinVar RCV Id: RCV000150390 ; RCV000225418 ; RCV000723851 ; RCV001167988 ; RCV001167987
• dbSNP Id: rs187221008
• ExAC: 9:117170303 A / T
• gnomAD v2: 9-117170303-A-T
• gnomAD v3: 9-114408023-A-T
• gnomAD v4: 9-114408023-A-T
• MyVariant Identifiers: chr9:g.117170303A>T (hg19) ; chr9:g.114408023A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114408023A>T , CM000671.2:g.114408023A>T	GRCh38
NC_000009.11:g.117170303A>T , CM000671.1:g.117170303A>T	GRCh37
NC_000009.10:g.116210124A>T	NCBI36
NG_016700.1:g.102434T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1627-5T>A MANE Select	ENSP00000354623.3:n.1627-5T>A
ENST00000673811.1:n.2351-5T>A
ENST00000674036.8:c.600-5T>A
ENST00000674048.1:n.1508-5T>A
ENST00000265134.10:c.478-5T>A	ENSP00000265134.6:n.478-5T>A
ENST00000362057.3:c.1627-5T>A	ENSP00000354623.3:n.1627-5T>A
ENST00000374059.7:c.574-5T>A	ENSP00000363172.3:n.574-5T>A
NM_001083885.2:c.478-5T>A	NP_001077354.2:n.478-5T>A
NM_001173425.1:c.1627-5T>A	NP_001166896.1:n.1627-5T>A
NM_015404.3:c.1627-5T>A	NP_056219.3:n.1627-5T>A
XM_005251897.3:c.964-5T>A	XP_005251954.2:n.964-5T>A
XM_011518484.1:c.1660-5T>A	XP_011516786.1:n.1660-5T>A
XM_011518485.1:c.1660-5T>A	XP_011516787.1:n.1660-5T>A
XM_011518486.1:c.1660-5T>A	XP_011516788.1:n.1660-5T>A
XM_011518487.1:c.1534-5T>A	XP_011516789.1:n.1534-5T>A
XM_011518488.1:c.1417-5T>A	XP_011516790.1:n.1417-5T>A
XM_011518492.1:c.*12-5T>A	XP_011516794.1:n.*12-5T>A
XM_011518495.1:c.337-5T>A	XP_011516797.1:n.337-5T>A
XR_929747.1:n.2564-5T>A
XR_929748.1:n.2462-5T>A
XR_929750.1:n.2563-5T>A
XR_929751.1:n.2470-5T>A
XR_929757.1:n.2437-5T>A
NM_001346890.1:c.574-5T>A	NP_001333819.1:n.574-5T>A
XM_011518486.2:c.1660-5T>A	XP_011516788.1:n.1660-5T>A
XM_011518487.2:c.1534-5T>A	XP_011516789.1:n.1534-5T>A
XM_011518488.2:c.1417-5T>A	XP_011516790.1:n.1417-5T>A
XM_011518492.2:c.*12-5T>A	XP_011516794.1:n.*12-5T>A
XR_929747.2:n.1875-5T>A
XR_929748.2:n.1773-5T>A
XR_929750.3:n.1874-5T>A
XR_929757.2:n.1748-5T>A
NM_015404.4:c.1627-5T>A MANE Select	NP_056219.3:n.1627-5T>A
NM_001173425.2:c.1627-5T>A	NP_001166896.1:n.1627-5T>A
NM_001083885.3:c.478-5T>A	NP_001077354.2:n.478-5T>A