Canonical Allele Identifier: CA5205857

Gene: WHRN

Linked Data

• ClinVar Variation Id: 2092717
• ClinVar RCV Id: RCV003018339
• dbSNP Id: rs780218779
• ExAC: 9:117170250 T / G
• gnomAD v2: 9-117170250-T-G
• gnomAD v4: 9-114407970-T-G
• MyVariant Identifiers: chr9:g.117170250T>G (hg19) ; chr9:g.114407970T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407970T>G , CM000671.2:g.114407970T>G	GRCh38
NC_000009.11:g.117170250T>G , CM000671.1:g.117170250T>G	GRCh37
NC_000009.10:g.116210071T>G	NCBI36
NG_016700.1:g.102487A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1675A>C MANE Select	ENSP00000354623.3:p.Asn559His
ENST00000673811.1:n.2399A>C
ENST00000674036.8:c.648A>C
ENST00000674048.1:n.1556A>C
ENST00000265134.10:c.526A>C	ENSP00000265134.6:p.Asn176His
ENST00000362057.3:c.1675A>C	ENSP00000354623.3:p.Asn559His
ENST00000374059.7:c.622A>C	ENSP00000363172.3:p.Asn208His
NM_001083885.2:c.526A>C	NP_001077354.2:p.Asn176His
NM_001173425.1:c.1675A>C	NP_001166896.1:p.Asn559His
NM_015404.3:c.1675A>C	NP_056219.3:p.Asn559His
XM_005251897.3:c.1012A>C	XP_005251954.2:p.Asn338His
XM_011518484.1:c.1708A>C	XP_011516786.1:p.Asn570His
XM_011518485.1:c.1708A>C	XP_011516787.1:p.Asn570His
XM_011518486.1:c.1708A>C	XP_011516788.1:p.Asn570His
XM_011518487.1:c.1582A>C	XP_011516789.1:p.Asn528His
XM_011518488.1:c.1465A>C	XP_011516790.1:p.Asn489His
XM_011518492.1:c.*60A>C	XP_011516794.1:n.*60A>C
XM_011518495.1:c.385A>C	XP_011516797.1:p.Asn129His
XR_929747.1:n.2612A>C
XR_929748.1:n.2510A>C
XR_929750.1:n.2611A>C
XR_929751.1:n.2518A>C
XR_929757.1:n.2485A>C
NM_001346890.1:c.622A>C	NP_001333819.1:p.Asn208His
XM_011518486.2:c.1708A>C	XP_011516788.1:p.Asn570His
XM_011518487.2:c.1582A>C	XP_011516789.1:p.Asn528His
XM_011518488.2:c.1465A>C	XP_011516790.1:p.Asn489His
XM_011518492.2:c.*60A>C	XP_011516794.1:n.*60A>C
XR_929747.2:n.1923A>C
XR_929748.2:n.1821A>C
XR_929750.3:n.1922A>C
XR_929757.2:n.1796A>C
NM_015404.4:c.1675A>C MANE Select	NP_056219.3:p.Asn559His
NM_001173425.2:c.1675A>C	NP_001166896.1:p.Asn559His
NM_001083885.3:c.526A>C	NP_001077354.2:p.Asn176His