Canonical Allele Identifier: CA5205565

Gene: WHRN

Linked Data

• ClinVar Variation Id: 912452
• ClinVar RCV Id: RCV001165661 ; RCV001165662 ; RCV001324966
• dbSNP Id: rs138731082
• ExAC: 9:117165125 C / T
• gnomAD v2: 9-117165125-C-T
• gnomAD v3: 9-114402845-C-T
• gnomAD v4: 9-114402845-C-T
• MyVariant Identifiers: chr9:g.117165125C>T (hg19) ; chr9:g.114402845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402845C>T , CM000671.2:g.114402845C>T	GRCh38
NC_000009.11:g.117165125C>T , CM000671.1:g.117165125C>T	GRCh37
NC_000009.10:g.116204946C>T	NCBI36
NG_016700.1:g.107612G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.977G>A	ENSP00000514396.1:p.Arg326Gln
ENST00000362057.4:c.2633G>A MANE Select	ENSP00000354623.3:p.Arg878Gln
ENST00000674036.8:c.1606G>A
ENST00000674048.1:n.2514G>A
ENST00000265134.10:c.1484G>A	ENSP00000265134.6:p.Arg495Gln
ENST00000362057.3:c.2633G>A	ENSP00000354623.3:p.Arg878Gln
ENST00000374059.7:c.1580G>A	ENSP00000363172.3:p.Arg527Gln
NM_001083885.2:c.1484G>A	NP_001077354.2:p.Arg495Gln
NM_001173425.1:c.2630G>A	NP_001166896.1:p.Arg877Gln
NM_015404.3:c.2633G>A	NP_056219.3:p.Arg878Gln
XM_005251897.3:c.1970G>A	XP_005251954.2:p.Arg657Gln
XM_011518484.1:c.2666G>A	XP_011516786.1:p.Arg889Gln
XM_011518485.1:c.2666G>A	XP_011516787.1:p.Arg889Gln
XM_011518486.1:c.2663G>A	XP_011516788.1:p.Arg888Gln
XM_011518487.1:c.2540G>A	XP_011516789.1:p.Arg847Gln
XM_011518488.1:c.2423G>A	XP_011516790.1:p.Arg808Gln
XM_011518495.1:c.1343G>A	XP_011516797.1:p.Arg448Gln
NM_001346890.1:c.1580G>A	NP_001333819.1:p.Arg527Gln
XM_011518486.2:c.2663G>A	XP_011516788.1:p.Arg888Gln
XM_011518487.2:c.2540G>A	XP_011516789.1:p.Arg847Gln
XM_011518488.2:c.2423G>A	XP_011516790.1:p.Arg808Gln
NM_015404.4:c.2633G>A MANE Select	NP_056219.3:p.Arg878Gln
NM_001173425.2:c.2630G>A	NP_001166896.1:p.Arg877Gln
NM_001083885.3:c.1484G>A	NP_001077354.2:p.Arg495Gln