Canonical Allele Identifier: CA5205689

Gene: WHRN

Linked Data

• ClinVar Variation Id: 836406
• ClinVar RCV Id: RCV001037526
• dbSNP Id: rs767100303
• ExAC: 9:117166348 G / A
• gnomAD v2: 9-117166348-G-A
• gnomAD v3: 9-114404068-G-A
• gnomAD v4: 9-114404068-G-A
• MyVariant Identifiers: chr9:g.117166348G>A (hg19) ; chr9:g.114404068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404068G>A , CM000671.2:g.114404068G>A	GRCh38
NC_000009.11:g.117166348G>A , CM000671.1:g.117166348G>A	GRCh37
NC_000009.10:g.116206169G>A	NCBI36
NG_016700.1:g.106389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.590C>T	ENSP00000514396.1:p.Thr197Met
ENST00000362057.4:c.2246C>T MANE Select	ENSP00000354623.3:p.Thr749Met
ENST00000674036.8:c.1219C>T
ENST00000674048.1:n.2127C>T
ENST00000265134.10:c.1097C>T	ENSP00000265134.6:p.Thr366Met
ENST00000362057.3:c.2246C>T	ENSP00000354623.3:p.Thr749Met
ENST00000374059.7:c.1193C>T	ENSP00000363172.3:p.Thr398Met
NM_001083885.2:c.1097C>T	NP_001077354.2:p.Thr366Met
NM_001173425.1:c.2243C>T	NP_001166896.1:p.Thr748Met
NM_015404.3:c.2246C>T	NP_056219.3:p.Thr749Met
XM_005251897.3:c.1583C>T	XP_005251954.2:p.Thr528Met
XM_011518484.1:c.2279C>T	XP_011516786.1:p.Thr760Met
XM_011518485.1:c.2279C>T	XP_011516787.1:p.Thr760Met
XM_011518486.1:c.2276C>T	XP_011516788.1:p.Thr759Met
XM_011518487.1:c.2153C>T	XP_011516789.1:p.Thr718Met
XM_011518488.1:c.2036C>T	XP_011516790.1:p.Thr679Met
XM_011518495.1:c.956C>T	XP_011516797.1:p.Thr319Met
XR_929747.1:n.3183C>T
XR_929748.1:n.3081C>T
NM_001346890.1:c.1193C>T	NP_001333819.1:p.Thr398Met
XM_011518486.2:c.2276C>T	XP_011516788.1:p.Thr759Met
XM_011518487.2:c.2153C>T	XP_011516789.1:p.Thr718Met
XM_011518488.2:c.2036C>T	XP_011516790.1:p.Thr679Met
XR_929747.2:n.2494C>T
XR_929748.2:n.2392C>T
NM_015404.4:c.2246C>T MANE Select	NP_056219.3:p.Thr749Met
NM_001173425.2:c.2243C>T	NP_001166896.1:p.Thr748Met
NM_001083885.3:c.1097C>T	NP_001077354.2:p.Thr366Met