Canonical Allele Identifier: CA5206065

Gene: WHRN

Linked Data

• dbSNP Id: rs774944578
• ExAC: 9:117188495 C / A
• gnomAD v2: 9-117188495-C-A
• gnomAD v4: 9-114426215-C-A
• MyVariant Identifiers: chr9:g.117188495C>A (hg19) ; chr9:g.114426215C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000699486.1:c.886G>T	ENSP00000514397.1:p.Ala296Ser
ENST00000362057.4:c.1162G>T MANE Select	ENSP00000354623.3:p.Ala388Ser
ENST00000673811.1:n.910G>T
ENST00000674036.8:c.345G>T
ENST00000265134.10:c.13G>T	ENSP00000265134.6:p.Ala5Ser
ENST00000362057.3:c.1162G>T	ENSP00000354623.3:p.Ala388Ser
NM_001083885.2:c.13G>T	NP_001077354.2:p.Ala5Ser
NM_001173425.1:c.1162G>T	NP_001166896.1:p.Ala388Ser
NM_015404.3:c.1162G>T	NP_056219.3:p.Ala388Ser
XM_005251897.3:c.964-18197G>T	XP_005251954.2:n.964-18197G>T
XM_011518484.1:c.1162G>T	XP_011516786.1:p.Ala388Ser
XM_011518485.1:c.1162G>T	XP_011516787.1:p.Ala388Ser
XM_011518486.1:c.1162G>T	XP_011516788.1:p.Ala388Ser
XM_011518487.1:c.1036G>T	XP_011516789.1:p.Ala346Ser
XM_011518488.1:c.1162G>T	XP_011516790.1:p.Ala388Ser
XM_011518489.1:c.1162G>T	XP_011516791.1:p.Ala388Ser
XM_011518490.1:c.1162G>T	XP_011516792.1:p.Ala388Ser
XM_011518491.1:c.1162G>T	XP_011516793.1:p.Ala388Ser
XM_011518492.1:c.1162G>T	XP_011516794.1:p.Ala388Ser
XM_011518493.1:c.1162G>T	XP_011516795.1:p.Ala388Ser
XM_011518494.1:c.1162G>T	XP_011516796.1:p.Ala388Ser
XM_011518495.1:c.-157-1191G>T	XP_011516797.1:n.-157-1191G>T
XR_929747.1:n.1870G>T
XR_929748.1:n.1870G>T
XR_929749.1:n.1870G>T
XR_929750.1:n.1870G>T
XR_929751.1:n.1870G>T
XR_929752.1:n.1870G>T
XR_929753.1:n.1870G>T
XR_929754.1:n.1870G>T
XR_929755.1:n.1870G>T
XR_929756.1:n.1870G>T
XR_929757.1:n.1870G>T
XM_011518486.2:c.1162G>T	XP_011516788.1:p.Ala388Ser
XM_011518487.2:c.1036G>T	XP_011516789.1:p.Ala346Ser
XM_011518488.2:c.1162G>T	XP_011516790.1:p.Ala388Ser
XM_011518489.3:c.1162G>T	XP_011516791.1:p.Ala388Ser
XM_011518491.3:c.1162G>T	XP_011516793.1:p.Ala388Ser
XM_011518492.2:c.1162G>T	XP_011516794.1:p.Ala388Ser
XM_011518494.3:c.1162G>T	XP_011516796.1:p.Ala388Ser
XR_929747.2:n.1181G>T
XR_929748.2:n.1181G>T
XR_929749.2:n.1181G>T
XR_929750.3:n.1181G>T
XR_929752.2:n.1181G>T
XR_929753.3:n.1181G>T
XR_929754.2:n.1181G>T
XR_929755.3:n.1181G>T
XR_929756.2:n.1181G>T
XR_929757.2:n.1181G>T
NM_015404.4:c.1162G>T MANE Select	NP_056219.3:p.Ala388Ser
NM_001173425.2:c.1162G>T	NP_001166896.1:p.Ala388Ser
NM_001083885.3:c.13G>T	NP_001077354.2:p.Ala5Ser