Canonical Allele Identifier: CA10632348

Gene: WHRN

Linked Data

• ClinVar Variation Id: 364705
• ClinVar RCV Id: RCV000289293 ; RCV000383701
• dbSNP Id: rs886063374
• gnomAD v2: 9-117267564-C-T
• gnomAD v3: 9-114505284-C-T
• gnomAD v4: 9-114505284-C-T
• MyVariant Identifiers: chr9:g.117267564C>T (hg19) ; chr9:g.114505284C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114505284C>T , CM000671.2:g.114505284C>T	GRCh38
NC_000009.11:g.117267564C>T , CM000671.1:g.117267564C>T	GRCh37
NC_000009.10:g.116307385C>T	NCBI36
NG_016700.1:g.5173G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.-483G>A MANE Select	ENSP00000354623.3:n.-483G>A
ENST00000673697.1:c.-340G>A	ENSP00000501152.1:n.-340G>A
ENST00000374057.3:c.-483G>A	ENSP00000363170.3:n.-483G>A
NM_001173425.1:c.-483G>A	NP_001166896.1:n.-483G>A
NM_015404.3:c.-483G>A	NP_056219.3:n.-483G>A
XM_005251897.3:c.-483G>A	XP_005251954.2:n.-483G>A
XM_011518484.1:c.-483G>A	XP_011516786.1:n.-483G>A
XM_011518485.1:c.-340G>A	XP_011516787.1:n.-340G>A
XM_011518486.1:c.-483G>A	XP_011516788.1:n.-483G>A
XM_011518487.1:c.-483G>A	XP_011516789.1:n.-483G>A
XM_011518488.1:c.-483G>A	XP_011516790.1:n.-483G>A
XM_011518489.1:c.-483G>A	XP_011516791.1:n.-483G>A
XM_011518490.1:c.-483G>A	XP_011516792.1:n.-483G>A
XM_011518491.1:c.-483G>A	XP_011516793.1:n.-483G>A
XM_011518492.1:c.-483G>A	XP_011516794.1:n.-483G>A
XM_011518493.1:c.-483G>A	XP_011516795.1:n.-483G>A
XM_011518494.1:c.-483G>A	XP_011516796.1:n.-483G>A
XR_929747.1:n.226G>A
XR_929748.1:n.226G>A
XR_929749.1:n.226G>A
XR_929750.1:n.226G>A
XR_929751.1:n.226G>A
XR_929752.1:n.226G>A
XR_929753.1:n.226G>A
XR_929754.1:n.226G>A
XR_929755.1:n.226G>A
XR_929756.1:n.226G>A
XR_929757.1:n.226G>A
NM_015404.4:c.-483G>A MANE Select	NP_056219.3:n.-483G>A
NM_001173425.2:c.-483G>A	NP_001166896.1:n.-483G>A