Canonical Allele Identifier: CA374609736

Gene: WHRN

Linked Data

• ClinVar Variation Id: 2011881
• ClinVar RCV Id: RCV002838743
• dbSNP Id: rs774944578
• gnomAD v2: 9-117188495-C-T
• MyVariant Identifiers: chr9:g.117188495C>T (hg19) ; chr9:g.114426215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114426215C>T , CM000671.2:g.114426215C>T	GRCh38
NC_000009.11:g.117188495C>T , CM000671.1:g.117188495C>T	GRCh37
NC_000009.10:g.116228316C>T	NCBI36
NG_016700.1:g.84242G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699486.1:c.886G>A	ENSP00000514397.1:p.Ala296Thr
ENST00000362057.4:c.1162G>A MANE Select	ENSP00000354623.3:p.Ala388Thr
ENST00000673811.1:n.910G>A
ENST00000674036.8:c.345G>A
ENST00000265134.10:c.13G>A	ENSP00000265134.6:p.Ala5Thr
ENST00000362057.3:c.1162G>A	ENSP00000354623.3:p.Ala388Thr
NM_001083885.2:c.13G>A	NP_001077354.2:p.Ala5Thr
NM_001173425.1:c.1162G>A	NP_001166896.1:p.Ala388Thr
NM_015404.3:c.1162G>A	NP_056219.3:p.Ala388Thr
XM_005251897.3:c.964-18197G>A	XP_005251954.2:n.964-18197G>A
XM_011518484.1:c.1162G>A	XP_011516786.1:p.Ala388Thr
XM_011518485.1:c.1162G>A	XP_011516787.1:p.Ala388Thr
XM_011518486.1:c.1162G>A	XP_011516788.1:p.Ala388Thr
XM_011518487.1:c.1036G>A	XP_011516789.1:p.Ala346Thr
XM_011518488.1:c.1162G>A	XP_011516790.1:p.Ala388Thr
XM_011518489.1:c.1162G>A	XP_011516791.1:p.Ala388Thr
XM_011518490.1:c.1162G>A	XP_011516792.1:p.Ala388Thr
XM_011518491.1:c.1162G>A	XP_011516793.1:p.Ala388Thr
XM_011518492.1:c.1162G>A	XP_011516794.1:p.Ala388Thr
XM_011518493.1:c.1162G>A	XP_011516795.1:p.Ala388Thr
XM_011518494.1:c.1162G>A	XP_011516796.1:p.Ala388Thr
XM_011518495.1:c.-157-1191G>A	XP_011516797.1:n.-157-1191G>A
XR_929747.1:n.1870G>A
XR_929748.1:n.1870G>A
XR_929749.1:n.1870G>A
XR_929750.1:n.1870G>A
XR_929751.1:n.1870G>A
XR_929752.1:n.1870G>A
XR_929753.1:n.1870G>A
XR_929754.1:n.1870G>A
XR_929755.1:n.1870G>A
XR_929756.1:n.1870G>A
XR_929757.1:n.1870G>A
XM_011518486.2:c.1162G>A	XP_011516788.1:p.Ala388Thr
XM_011518487.2:c.1036G>A	XP_011516789.1:p.Ala346Thr
XM_011518488.2:c.1162G>A	XP_011516790.1:p.Ala388Thr
XM_011518489.3:c.1162G>A	XP_011516791.1:p.Ala388Thr
XM_011518491.3:c.1162G>A	XP_011516793.1:p.Ala388Thr
XM_011518492.2:c.1162G>A	XP_011516794.1:p.Ala388Thr
XM_011518494.3:c.1162G>A	XP_011516796.1:p.Ala388Thr
XR_929747.2:n.1181G>A
XR_929748.2:n.1181G>A
XR_929749.2:n.1181G>A
XR_929750.3:n.1181G>A
XR_929752.2:n.1181G>A
XR_929753.3:n.1181G>A
XR_929754.2:n.1181G>A
XR_929755.3:n.1181G>A
XR_929756.2:n.1181G>A
XR_929757.2:n.1181G>A
NM_015404.4:c.1162G>A MANE Select	NP_056219.3:p.Ala388Thr
NM_001173425.2:c.1162G>A	NP_001166896.1:p.Ala388Thr
NM_001083885.3:c.13G>A	NP_001077354.2:p.Ala5Thr