Canonical Allele Identifier: CA346771727
Gene: FSHR HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48989022A>T , CM000664.2:g.48989022A>T GRCh38
NC_000002.11:g.49216161A>T , CM000664.1:g.49216161A>T GRCh37
NC_000002.10:g.49069665A>T NCBI36
NG_008146.1:g.170470T>A , LRG_536:g.170470T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.479T>A MANE Select ENSP00000384708.2:p.Ile160Asn
ENST00000304421.8:c.446+1544T>A ENSP00000306780.4:n.446+1544T>A
ENST00000406846.6:c.479T>A ENSP00000384708.2:p.Ile160Asn
ENST00000419927.1:c.*271T>A ENSP00000405775.1:n.*271T>A
ENST00000454032.5:c.479T>A ENSP00000415504.1:p.Ile160Asn
ENST00000469138.5:n.240T>A
NM_000145.3:c.479T>A , LRG_536t1:c.479T>A NP_000136.2:p.Ile160Asn
NM_181446.2:c.446+1544T>A NP_852111.2:n.446+1544T>A
XM_011532733.1:c.479T>A XP_011531035.1:p.Ile160Asn
XM_011532734.1:c.146T>A XP_011531036.1:p.Ile49Asn
XM_011532735.1:c.-416T>A XP_011531037.1:n.-416T>A
XM_011532736.1:c.-314T>A XP_011531038.1:n.-314T>A
XM_011532737.1:c.479T>A XP_011531039.1:p.Ile160Asn
XM_011532738.1:c.479T>A XP_011531040.1:p.Ile160Asn
XM_011532739.1:c.479T>A XP_011531041.1:p.Ile160Asn
XM_011532740.1:c.479T>A XP_011531042.1:p.Ile160Asn
XM_011532733.2:c.479T>A XP_011531035.1:p.Ile160Asn
XM_011532734.2:c.146T>A XP_011531036.1:p.Ile49Asn
XM_011532735.2:c.-416T>A XP_011531037.1:n.-416T>A
XM_011532736.2:c.-314T>A XP_011531038.1:n.-314T>A
NM_000145.4:c.479T>A MANE Select NP_000136.2:p.Ile160Asn
NM_181446.3:c.446+1544T>A NP_852111.2:n.446+1544T>A