Canonical Allele Identifier: CA374621191

Gene: WHRN

Linked Data

• gnomAD v4: 9-114407989-C-A
• MyVariant Identifiers: chr9:g.117170269C>A (hg19) ; chr9:g.114407989C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407989C>A , CM000671.2:g.114407989C>A	GRCh38
NC_000009.11:g.117170269C>A , CM000671.1:g.117170269C>A	GRCh37
NC_000009.10:g.116210090C>A	NCBI36
NG_016700.1:g.102468G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1656G>T MANE Select	ENSP00000354623.3:p.Glu552Asp
ENST00000673811.1:n.2380G>T
ENST00000674036.8:c.629G>T
ENST00000674048.1:n.1537G>T
ENST00000265134.10:c.507G>T	ENSP00000265134.6:p.Glu169Asp
ENST00000362057.3:c.1656G>T	ENSP00000354623.3:p.Glu552Asp
ENST00000374059.7:c.603G>T	ENSP00000363172.3:p.Glu201Asp
NM_001083885.2:c.507G>T	NP_001077354.2:p.Glu169Asp
NM_001173425.1:c.1656G>T	NP_001166896.1:p.Glu552Asp
NM_015404.3:c.1656G>T	NP_056219.3:p.Glu552Asp
XM_005251897.3:c.993G>T	XP_005251954.2:p.Glu331Asp
XM_011518484.1:c.1689G>T	XP_011516786.1:p.Glu563Asp
XM_011518485.1:c.1689G>T	XP_011516787.1:p.Glu563Asp
XM_011518486.1:c.1689G>T	XP_011516788.1:p.Glu563Asp
XM_011518487.1:c.1563G>T	XP_011516789.1:p.Glu521Asp
XM_011518488.1:c.1446G>T	XP_011516790.1:p.Glu482Asp
XM_011518492.1:c.*41G>T	XP_011516794.1:n.*41G>T
XM_011518495.1:c.366G>T	XP_011516797.1:p.Glu122Asp
XR_929747.1:n.2593G>T
XR_929748.1:n.2491G>T
XR_929750.1:n.2592G>T
XR_929751.1:n.2499G>T
XR_929757.1:n.2466G>T
NM_001346890.1:c.603G>T	NP_001333819.1:p.Glu201Asp
XM_011518486.2:c.1689G>T	XP_011516788.1:p.Glu563Asp
XM_011518487.2:c.1563G>T	XP_011516789.1:p.Glu521Asp
XM_011518488.2:c.1446G>T	XP_011516790.1:p.Glu482Asp
XM_011518492.2:c.*41G>T	XP_011516794.1:n.*41G>T
XR_929747.2:n.1904G>T
XR_929748.2:n.1802G>T
XR_929750.3:n.1903G>T
XR_929757.2:n.1777G>T
NM_015404.4:c.1656G>T MANE Select	NP_056219.3:p.Glu552Asp
NM_001173425.2:c.1656G>T	NP_001166896.1:p.Glu552Asp
NM_001083885.3:c.507G>T	NP_001077354.2:p.Glu169Asp