Canonical Allele Identifier: CA136896

Gene: WHRN

Linked Data

• ClinVar Variation Id: 45662
• ClinVar RCV Id: RCV000038880 ; RCV001213992
• dbSNP Id: rs189654215
• ExAC: 9:117170229 C / G
• gnomAD v2: 9-117170229-C-G
• gnomAD v3: 9-114407949-C-G
• gnomAD v4: 9-114407949-C-G
• MyVariant Identifiers: chr9:g.117170229C>G (hg19) ; chr9:g.114407949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407949C>G , CM000671.2:g.114407949C>G	GRCh38
NC_000009.11:g.117170229C>G , CM000671.1:g.117170229C>G	GRCh37
NC_000009.10:g.116210050C>G	NCBI36
NG_016700.1:g.102508G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1696G>C MANE Select	ENSP00000354623.3:p.Val566Leu
ENST00000673811.1:n.2420G>C
ENST00000674036.8:c.669G>C
ENST00000674048.1:n.1577G>C
ENST00000265134.10:c.547G>C	ENSP00000265134.6:p.Val183Leu
ENST00000362057.3:c.1696G>C	ENSP00000354623.3:p.Val566Leu
ENST00000374059.7:c.643G>C	ENSP00000363172.3:p.Val215Leu
NM_001083885.2:c.547G>C	NP_001077354.2:p.Val183Leu
NM_001173425.1:c.1696G>C	NP_001166896.1:p.Val566Leu
NM_015404.3:c.1696G>C	NP_056219.3:p.Val566Leu
XM_005251897.3:c.1033G>C	XP_005251954.2:p.Val345Leu
XM_011518484.1:c.1729G>C	XP_011516786.1:p.Val577Leu
XM_011518485.1:c.1729G>C	XP_011516787.1:p.Val577Leu
XM_011518486.1:c.1729G>C	XP_011516788.1:p.Val577Leu
XM_011518487.1:c.1603G>C	XP_011516789.1:p.Val535Leu
XM_011518488.1:c.1486G>C	XP_011516790.1:p.Val496Leu
XM_011518492.1:c.*81G>C	XP_011516794.1:n.*81G>C
XM_011518495.1:c.406G>C	XP_011516797.1:p.Val136Leu
XR_929747.1:n.2633G>C
XR_929748.1:n.2531G>C
XR_929751.1:n.2539G>C
XR_929757.1:n.2506G>C
NM_001346890.1:c.643G>C	NP_001333819.1:p.Val215Leu
XM_011518486.2:c.1729G>C	XP_011516788.1:p.Val577Leu
XM_011518487.2:c.1603G>C	XP_011516789.1:p.Val535Leu
XM_011518488.2:c.1486G>C	XP_011516790.1:p.Val496Leu
XM_011518492.2:c.*81G>C	XP_011516794.1:n.*81G>C
XR_929747.2:n.1944G>C
XR_929748.2:n.1842G>C
XR_929750.3:n.1943G>C
XR_929757.2:n.1817G>C
NM_015404.4:c.1696G>C MANE Select	NP_056219.3:p.Val566Leu
NM_001173425.2:c.1696G>C	NP_001166896.1:p.Val566Leu
NM_001083885.3:c.547G>C	NP_001077354.2:p.Val183Leu