Canonical Allele Identifier: CA126291

Gene: FSHR

Linked Data

• ClinVar Variation Id: 16243
• ClinVar RCV Id: RCV000017630
• dbSNP Id: rs121909658
• ExAC: 2:49210264 G / A
• gnomAD v2: 2-49210264-G-A
• gnomAD v3: 2-48983125-G-A
• gnomAD v4: 2-48983125-G-A
• MyVariant Identifiers: chr2:g.49210264G>A (hg19) ; chr2:g.48983125G>A (hg38)
• PubMed: PMID:7553856 ; PMID:8855829 ; PMID:9020851 ; PMID:9851774 ; PMID:11754099

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48983125G>A , CM000664.2:g.48983125G>A	GRCh38
NC_000002.11:g.49210264G>A , CM000664.1:g.49210264G>A	GRCh37
NC_000002.10:g.49063768G>A	NCBI36
NG_008146.1:g.176367C>T , LRG_536:g.176367C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000406846.7:c.566C>T MANE Select	ENSP00000384708.2:p.Ala189Val
ENST00000304421.8:c.488C>T	ENSP00000306780.4:p.Ala163Val
ENST00000406846.6:c.566C>T	ENSP00000384708.2:p.Ala189Val
ENST00000419927.1:c.*358C>T	ENSP00000405775.1:n.*358C>T
ENST00000454032.5:c.566C>T	ENSP00000415504.1:p.Ala189Val
ENST00000469138.5:n.327C>T
NM_000145.3:c.566C>T , LRG_536t1:c.566C>T	NP_000136.2:p.Ala189Val
NM_181446.2:c.488C>T	NP_852111.2:p.Ala163Val
XM_011532733.1:c.566C>T	XP_011531035.1:p.Ala189Val
XM_011532734.1:c.233C>T	XP_011531036.1:p.Ala78Val
XM_011532735.1:c.-329C>T	XP_011531037.1:n.-329C>T
XM_011532736.1:c.-227C>T	XP_011531038.1:n.-227C>T
XM_011532737.1:c.566C>T	XP_011531039.1:p.Ala189Val
XM_011532738.1:c.566C>T	XP_011531040.1:p.Ala189Val
XM_011532739.1:c.566C>T	XP_011531041.1:p.Ala189Val
XM_011532740.1:c.566C>T	XP_011531042.1:p.Ala189Val
XM_011532733.2:c.566C>T	XP_011531035.1:p.Ala189Val
XM_011532734.2:c.233C>T	XP_011531036.1:p.Ala78Val
XM_011532735.2:c.-329C>T	XP_011531037.1:n.-329C>T
XM_011532736.2:c.-227C>T	XP_011531038.1:n.-227C>T
NM_000145.4:c.566C>T MANE Select	NP_000136.2:p.Ala189Val
NM_181446.3:c.488C>T	NP_852111.2:p.Ala163Val