Canonical Allele Identifier: CA374621210

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117170279T>A (hg19) ; chr9:g.114407999T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407999T>A , CM000671.2:g.114407999T>A	GRCh38
NC_000009.11:g.117170279T>A , CM000671.1:g.117170279T>A	GRCh37
NC_000009.10:g.116210100T>A	NCBI36
NG_016700.1:g.102458A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1646A>T MANE Select	ENSP00000354623.3:p.Glu549Val
ENST00000673811.1:n.2370A>T
ENST00000674036.8:c.619A>T
ENST00000674048.1:n.1527A>T
ENST00000265134.10:c.497A>T	ENSP00000265134.6:p.Glu166Val
ENST00000362057.3:c.1646A>T	ENSP00000354623.3:p.Glu549Val
ENST00000374059.7:c.593A>T	ENSP00000363172.3:p.Glu198Val
NM_001083885.2:c.497A>T	NP_001077354.2:p.Glu166Val
NM_001173425.1:c.1646A>T	NP_001166896.1:p.Glu549Val
NM_015404.3:c.1646A>T	NP_056219.3:p.Glu549Val
XM_005251897.3:c.983A>T	XP_005251954.2:p.Glu328Val
XM_011518484.1:c.1679A>T	XP_011516786.1:p.Glu560Val
XM_011518485.1:c.1679A>T	XP_011516787.1:p.Glu560Val
XM_011518486.1:c.1679A>T	XP_011516788.1:p.Glu560Val
XM_011518487.1:c.1553A>T	XP_011516789.1:p.Glu518Val
XM_011518488.1:c.1436A>T	XP_011516790.1:p.Glu479Val
XM_011518492.1:c.*31A>T	XP_011516794.1:n.*31A>T
XM_011518495.1:c.356A>T	XP_011516797.1:p.Glu119Val
XR_929747.1:n.2583A>T
XR_929748.1:n.2481A>T
XR_929750.1:n.2582A>T
XR_929751.1:n.2489A>T
XR_929757.1:n.2456A>T
NM_001346890.1:c.593A>T	NP_001333819.1:p.Glu198Val
XM_011518486.2:c.1679A>T	XP_011516788.1:p.Glu560Val
XM_011518487.2:c.1553A>T	XP_011516789.1:p.Glu518Val
XM_011518488.2:c.1436A>T	XP_011516790.1:p.Glu479Val
XM_011518492.2:c.*31A>T	XP_011516794.1:n.*31A>T
XR_929747.2:n.1894A>T
XR_929748.2:n.1792A>T
XR_929750.3:n.1893A>T
XR_929757.2:n.1767A>T
NM_015404.4:c.1646A>T MANE Select	NP_056219.3:p.Glu549Val
NM_001173425.2:c.1646A>T	NP_001166896.1:p.Glu549Val
NM_001083885.3:c.497A>T	NP_001077354.2:p.Glu166Val