Canonical Allele Identifier: CA5205677

Gene: WHRN

Linked Data

• ClinVar Variation Id: 1929399
• ClinVar RCV Id: RCV002642369
• dbSNP Id: rs377488287
• ExAC: 9:117166325 C / T
• gnomAD v2: 9-117166325-C-T
• gnomAD v3: 9-114404045-C-T
• gnomAD v4: 9-114404045-C-T
• MyVariant Identifiers: chr9:g.117166325C>T (hg19) ; chr9:g.114404045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404045C>T , CM000671.2:g.114404045C>T	GRCh38
NC_000009.11:g.117166325C>T , CM000671.1:g.117166325C>T	GRCh37
NC_000009.10:g.116206146C>T	NCBI36
NG_016700.1:g.106412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.613G>A	ENSP00000514396.1:p.Gly205Arg
ENST00000362057.4:c.2269G>A MANE Select	ENSP00000354623.3:p.Gly757Arg
ENST00000674036.8:c.1242G>A
ENST00000674048.1:n.2150G>A
ENST00000265134.10:c.1120G>A	ENSP00000265134.6:p.Gly374Arg
ENST00000362057.3:c.2269G>A	ENSP00000354623.3:p.Gly757Arg
ENST00000374059.7:c.1216G>A	ENSP00000363172.3:p.Gly406Arg
NM_001083885.2:c.1120G>A	NP_001077354.2:p.Gly374Arg
NM_001173425.1:c.2266G>A	NP_001166896.1:p.Gly756Arg
NM_015404.3:c.2269G>A	NP_056219.3:p.Gly757Arg
XM_005251897.3:c.1606G>A	XP_005251954.2:p.Gly536Arg
XM_011518484.1:c.2302G>A	XP_011516786.1:p.Gly768Arg
XM_011518485.1:c.2302G>A	XP_011516787.1:p.Gly768Arg
XM_011518486.1:c.2299G>A	XP_011516788.1:p.Gly767Arg
XM_011518487.1:c.2176G>A	XP_011516789.1:p.Gly726Arg
XM_011518488.1:c.2059G>A	XP_011516790.1:p.Gly687Arg
XM_011518495.1:c.979G>A	XP_011516797.1:p.Gly327Arg
XR_929747.1:n.3206G>A
XR_929748.1:n.3104G>A
NM_001346890.1:c.1216G>A	NP_001333819.1:p.Gly406Arg
XM_011518486.2:c.2299G>A	XP_011516788.1:p.Gly767Arg
XM_011518487.2:c.2176G>A	XP_011516789.1:p.Gly726Arg
XM_011518488.2:c.2059G>A	XP_011516790.1:p.Gly687Arg
XR_929747.2:n.2517G>A
XR_929748.2:n.2415G>A
NM_015404.4:c.2269G>A MANE Select	NP_056219.3:p.Gly757Arg
NM_001173425.2:c.2266G>A	NP_001166896.1:p.Gly756Arg
NM_001083885.3:c.1120G>A	NP_001077354.2:p.Gly374Arg