Canonical Allele Identifier: CA126334
Gene: FSHR HGNC NCBI

Linked Data

ClinVar Variation Id: 16254
ClinVar RCV Id: RCV000017642
dbSNP Id: rs121909665
gnomAD v4: 2-48990629-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48990629G>T , CM000664.2:g.48990629G>T GRCh38
NC_000002.11:g.49217768G>T , CM000664.1:g.49217768G>T GRCh37
NC_000002.10:g.49071272G>T NCBI36
NG_008146.1:g.168863C>A , LRG_536:g.168863C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000406846.7:c.383C>A MANE Select ENSP00000384708.2:p.Ser128Tyr
ENST00000304421.8:c.383C>A ENSP00000306780.4:p.Ser128Tyr
ENST00000406846.6:c.383C>A ENSP00000384708.2:p.Ser128Tyr
ENST00000419927.1:c.*175C>A ENSP00000405775.1:n.*175C>A
ENST00000454032.5:c.383C>A ENSP00000415504.1:p.Ser128Tyr
ENST00000469138.5:n.144C>A
NM_000145.3:c.383C>A , LRG_536t1:c.383C>A NP_000136.2:p.Ser128Tyr
NM_181446.2:c.383C>A NP_852111.2:p.Ser128Tyr
XM_011532733.1:c.383C>A XP_011531035.1:p.Ser128Tyr
XM_011532734.1:c.50C>A XP_011531036.1:p.Ser17Tyr
XM_011532735.1:c.-512C>A XP_011531037.1:n.-512C>A
XM_011532736.1:c.-410C>A XP_011531038.1:n.-410C>A
XM_011532737.1:c.383C>A XP_011531039.1:p.Ser128Tyr
XM_011532738.1:c.383C>A XP_011531040.1:p.Ser128Tyr
XM_011532739.1:c.383C>A XP_011531041.1:p.Ser128Tyr
XM_011532740.1:c.383C>A XP_011531042.1:p.Ser128Tyr
XM_011532733.2:c.383C>A XP_011531035.1:p.Ser128Tyr
XM_011532734.2:c.50C>A XP_011531036.1:p.Ser17Tyr
XM_011532735.2:c.-512C>A XP_011531037.1:n.-512C>A
XM_011532736.2:c.-410C>A XP_011531038.1:n.-410C>A
NM_000145.4:c.383C>A MANE Select NP_000136.2:p.Ser128Tyr
NM_181446.3:c.383C>A NP_852111.2:p.Ser128Tyr