Canonical Allele Identifier: CA5205869

Gene: WHRN

Linked Data

• dbSNP Id: rs767294488
• ExAC: 9:117170295 T / A
• gnomAD v2: 9-117170295-T-A
• gnomAD v4: 9-114408015-T-A
• MyVariant Identifiers: chr9:g.117170295T>A (hg19) ; chr9:g.114408015T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114408015T>A , CM000671.2:g.114408015T>A	GRCh38
NC_000009.11:g.117170295T>A , CM000671.1:g.117170295T>A	GRCh37
NC_000009.10:g.116210116T>A	NCBI36
NG_016700.1:g.102442A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1630A>T MANE Select	ENSP00000354623.3:p.Thr544Ser
ENST00000673811.1:n.2354A>T
ENST00000674036.8:c.603A>T
ENST00000674048.1:n.1511A>T
ENST00000265134.10:c.481A>T	ENSP00000265134.6:p.Thr161Ser
ENST00000362057.3:c.1630A>T	ENSP00000354623.3:p.Thr544Ser
ENST00000374059.7:c.577A>T	ENSP00000363172.3:p.Thr193Ser
NM_001083885.2:c.481A>T	NP_001077354.2:p.Thr161Ser
NM_001173425.1:c.1630A>T	NP_001166896.1:p.Thr544Ser
NM_015404.3:c.1630A>T	NP_056219.3:p.Thr544Ser
XM_005251897.3:c.967A>T	XP_005251954.2:p.Thr323Ser
XM_011518484.1:c.1663A>T	XP_011516786.1:p.Thr555Ser
XM_011518485.1:c.1663A>T	XP_011516787.1:p.Thr555Ser
XM_011518486.1:c.1663A>T	XP_011516788.1:p.Thr555Ser
XM_011518487.1:c.1537A>T	XP_011516789.1:p.Thr513Ser
XM_011518488.1:c.1420A>T	XP_011516790.1:p.Thr474Ser
XM_011518492.1:c.*15A>T	XP_011516794.1:n.*15A>T
XM_011518495.1:c.340A>T	XP_011516797.1:p.Thr114Ser
XR_929747.1:n.2567A>T
XR_929748.1:n.2465A>T
XR_929750.1:n.2566A>T
XR_929751.1:n.2473A>T
XR_929757.1:n.2440A>T
NM_001346890.1:c.577A>T	NP_001333819.1:p.Thr193Ser
XM_011518486.2:c.1663A>T	XP_011516788.1:p.Thr555Ser
XM_011518487.2:c.1537A>T	XP_011516789.1:p.Thr513Ser
XM_011518488.2:c.1420A>T	XP_011516790.1:p.Thr474Ser
XM_011518492.2:c.*15A>T	XP_011516794.1:n.*15A>T
XR_929747.2:n.1878A>T
XR_929748.2:n.1776A>T
XR_929750.3:n.1877A>T
XR_929757.2:n.1751A>T
NM_015404.4:c.1630A>T MANE Select	NP_056219.3:p.Thr544Ser
NM_001173425.2:c.1630A>T	NP_001166896.1:p.Thr544Ser
NM_001083885.3:c.481A>T	NP_001077354.2:p.Thr161Ser