Canonical Allele Identifier: CA136912

Gene: WHRN

Linked Data

• ClinVar Variation Id: 45672
• ClinVar RCV Id: RCV000038890 ; RCV000278001 ; RCV000370224 ; RCV001517112
• dbSNP Id: rs2274159
• ExAC: 9:117166246 A / G
• gnomAD v2: 9-117166246-A-G
• gnomAD v3: 9-114403966-A-G
• gnomAD v4: 9-114403966-A-G
• COSMIC: COSM4163262 ; COSM4163263
• MyVariant Identifiers: chr9:g.117166246A>G (hg19) ; chr9:g.114403966A>G (hg38)
• PubMed: PMID:15841483

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403966A>G , CM000671.2:g.114403966A>G	GRCh38
NC_000009.11:g.117166246A>G , CM000671.1:g.117166246A>G	GRCh37
NC_000009.10:g.116206067A>G	NCBI36
NG_016700.1:g.106491T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.692T>C	ENSP00000514396.1:p.Val231Ala
ENST00000362057.4:c.2348T>C MANE Select	ENSP00000354623.3:p.Val783Ala
ENST00000674036.8:c.1321T>C
ENST00000674048.1:n.2229T>C
ENST00000265134.10:c.1199T>C	ENSP00000265134.6:p.Val400Ala
ENST00000362057.3:c.2348T>C	ENSP00000354623.3:p.Val783Ala
ENST00000374059.7:c.1295T>C	ENSP00000363172.3:p.Val432Ala
NM_001083885.2:c.1199T>C	NP_001077354.2:p.Val400Ala
NM_001173425.1:c.2345T>C	NP_001166896.1:p.Val782Ala
NM_015404.3:c.2348T>C	NP_056219.3:p.Val783Ala
XM_005251897.3:c.1685T>C	XP_005251954.2:p.Val562Ala
XM_011518484.1:c.2381T>C	XP_011516786.1:p.Val794Ala
XM_011518485.1:c.2381T>C	XP_011516787.1:p.Val794Ala
XM_011518486.1:c.2378T>C	XP_011516788.1:p.Val793Ala
XM_011518487.1:c.2255T>C	XP_011516789.1:p.Val752Ala
XM_011518488.1:c.2138T>C	XP_011516790.1:p.Val713Ala
XM_011518495.1:c.1058T>C	XP_011516797.1:p.Val353Ala
XR_929747.1:n.3285T>C
XR_929748.1:n.3183T>C
NM_001346890.1:c.1295T>C	NP_001333819.1:p.Val432Ala
XM_011518486.2:c.2378T>C	XP_011516788.1:p.Val793Ala
XM_011518487.2:c.2255T>C	XP_011516789.1:p.Val752Ala
XM_011518488.2:c.2138T>C	XP_011516790.1:p.Val713Ala
XR_929747.2:n.2596T>C
XR_929748.2:n.2494T>C
NM_015404.4:c.2348T>C MANE Select	NP_056219.3:p.Val783Ala
NM_001173425.2:c.2345T>C	NP_001166896.1:p.Val782Ala
NM_001083885.3:c.1199T>C	NP_001077354.2:p.Val400Ala