Canonical Allele Identifier: CA5206190

Gene: WHRN

Linked Data

• ClinVar Variation Id: 364696
• ClinVar RCV Id: RCV000273926 ; RCV000387115
• dbSNP Id: rs201863779
• ExAC: 9:117240828 C / G
• gnomAD v2: 9-117240828-C-G
• gnomAD v3: 9-114478548-C-G
• gnomAD v4: 9-114478548-C-G
• MyVariant Identifiers: chr9:g.117240828C>G (hg19) ; chr9:g.114478548C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114478548C>G , CM000671.2:g.114478548C>G	GRCh38
NC_000009.11:g.117240828C>G , CM000671.1:g.117240828C>G	GRCh37
NC_000009.10:g.116280649C>G	NCBI36
NG_016700.1:g.31909G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699486.1:c.561+5G>C	ENSP00000514397.1:n.561+5G>C
ENST00000362057.4:c.837+5G>C MANE Select	ENSP00000354623.3:n.837+5G>C
ENST00000673811.1:n.585+5G>C
ENST00000674036.8:c.20+5G>C
ENST00000265134.10:c.-313+5G>C	ENSP00000265134.6:n.-313+5G>C
ENST00000362057.3:c.837+5G>C	ENSP00000354623.3:n.837+5G>C
ENST00000374057.3:c.842G>C	ENSP00000363170.3:p.Ser281Thr
NM_001083885.2:c.-313+5G>C	NP_001077354.2:n.-313+5G>C
NM_001173425.1:c.837+5G>C	NP_001166896.1:n.837+5G>C
NM_015404.3:c.837+5G>C	NP_056219.3:n.837+5G>C
XM_005251897.3:c.837+5G>C	XP_005251954.2:n.837+5G>C
XM_011518484.1:c.837+5G>C	XP_011516786.1:n.837+5G>C
XM_011518485.1:c.837+5G>C	XP_011516787.1:n.837+5G>C
XM_011518486.1:c.837+5G>C	XP_011516788.1:n.837+5G>C
XM_011518487.1:c.837+5G>C	XP_011516789.1:n.837+5G>C
XM_011518488.1:c.837+5G>C	XP_011516790.1:n.837+5G>C
XM_011518489.1:c.837+5G>C	XP_011516791.1:n.837+5G>C
XM_011518490.1:c.837+5G>C	XP_011516792.1:n.837+5G>C
XM_011518491.1:c.837+5G>C	XP_011516793.1:n.837+5G>C
XM_011518492.1:c.837+5G>C	XP_011516794.1:n.837+5G>C
XM_011518493.1:c.837+5G>C	XP_011516795.1:n.837+5G>C
XM_011518494.1:c.837+5G>C	XP_011516796.1:n.837+5G>C
XR_929747.1:n.1545+5G>C
XR_929748.1:n.1545+5G>C
XR_929749.1:n.1545+5G>C
XR_929750.1:n.1545+5G>C
XR_929751.1:n.1545+5G>C
XR_929752.1:n.1545+5G>C
XR_929753.1:n.1545+5G>C
XR_929754.1:n.1545+5G>C
XR_929755.1:n.1545+5G>C
XR_929756.1:n.1545+5G>C
XR_929757.1:n.1545+5G>C
XM_011518486.2:c.837+5G>C	XP_011516788.1:n.837+5G>C
XM_011518487.2:c.837+5G>C	XP_011516789.1:n.837+5G>C
XM_011518488.2:c.837+5G>C	XP_011516790.1:n.837+5G>C
XM_011518489.3:c.837+5G>C	XP_011516791.1:n.837+5G>C
XM_011518491.3:c.837+5G>C	XP_011516793.1:n.837+5G>C
XM_011518492.2:c.837+5G>C	XP_011516794.1:n.837+5G>C
XM_011518494.3:c.837+5G>C	XP_011516796.1:n.837+5G>C
XR_929747.2:n.856+5G>C
XR_929748.2:n.856+5G>C
XR_929749.2:n.856+5G>C
XR_929750.3:n.856+5G>C
XR_929752.2:n.856+5G>C
XR_929753.3:n.856+5G>C
XR_929754.2:n.856+5G>C
XR_929755.3:n.856+5G>C
XR_929756.2:n.856+5G>C
XR_929757.2:n.856+5G>C
NM_015404.4:c.837+5G>C MANE Select	NP_056219.3:n.837+5G>C
NM_001173425.2:c.837+5G>C	NP_001166896.1:n.837+5G>C
NM_001083885.3:c.-313+5G>C	NP_001077354.2:n.-313+5G>C