Canonical Allele Identifier: CA374621167

Gene: WHRN

Linked Data

• gnomAD v4: 9-114407978-C-A
• MyVariant Identifiers: chr9:g.117170258C>A (hg19) ; chr9:g.114407978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407978C>A , CM000671.2:g.114407978C>A	GRCh38
NC_000009.11:g.117170258C>A , CM000671.1:g.117170258C>A	GRCh37
NC_000009.10:g.116210079C>A	NCBI36
NG_016700.1:g.102479G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1667G>T MANE Select	ENSP00000354623.3:p.Gly556Val
ENST00000673811.1:n.2391G>T
ENST00000674036.8:c.640G>T
ENST00000674048.1:n.1548G>T
ENST00000265134.10:c.518G>T	ENSP00000265134.6:p.Gly173Val
ENST00000362057.3:c.1667G>T	ENSP00000354623.3:p.Gly556Val
ENST00000374059.7:c.614G>T	ENSP00000363172.3:p.Gly205Val
NM_001083885.2:c.518G>T	NP_001077354.2:p.Gly173Val
NM_001173425.1:c.1667G>T	NP_001166896.1:p.Gly556Val
NM_015404.3:c.1667G>T	NP_056219.3:p.Gly556Val
XM_005251897.3:c.1004G>T	XP_005251954.2:p.Gly335Val
XM_011518484.1:c.1700G>T	XP_011516786.1:p.Gly567Val
XM_011518485.1:c.1700G>T	XP_011516787.1:p.Gly567Val
XM_011518486.1:c.1700G>T	XP_011516788.1:p.Gly567Val
XM_011518487.1:c.1574G>T	XP_011516789.1:p.Gly525Val
XM_011518488.1:c.1457G>T	XP_011516790.1:p.Gly486Val
XM_011518492.1:c.*52G>T	XP_011516794.1:n.*52G>T
XM_011518495.1:c.377G>T	XP_011516797.1:p.Gly126Val
XR_929747.1:n.2604G>T
XR_929748.1:n.2502G>T
XR_929750.1:n.2603G>T
XR_929751.1:n.2510G>T
XR_929757.1:n.2477G>T
NM_001346890.1:c.614G>T	NP_001333819.1:p.Gly205Val
XM_011518486.2:c.1700G>T	XP_011516788.1:p.Gly567Val
XM_011518487.2:c.1574G>T	XP_011516789.1:p.Gly525Val
XM_011518488.2:c.1457G>T	XP_011516790.1:p.Gly486Val
XM_011518492.2:c.*52G>T	XP_011516794.1:n.*52G>T
XR_929747.2:n.1915G>T
XR_929748.2:n.1813G>T
XR_929750.3:n.1914G>T
XR_929757.2:n.1788G>T
NM_015404.4:c.1667G>T MANE Select	NP_056219.3:p.Gly556Val
NM_001173425.2:c.1667G>T	NP_001166896.1:p.Gly556Val
NM_001083885.3:c.518G>T	NP_001077354.2:p.Gly173Val