Canonical Allele Identifier: CA16604316
Gene: FSHR HGNC NCBI

Linked Data

ClinVar Variation Id: 391834
ClinVar RCV Id: RCV000418908
dbSNP Id: rs1057524255
gnomAD v2: 2-49195888-C-A
gnomAD v3: 2-48968749-C-A
gnomAD v4: 2-48968749-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48968749C>A , CM000664.2:g.48968749C>A GRCh38
NC_000002.11:g.49195888C>A , CM000664.1:g.49195888C>A GRCh37
NC_000002.10:g.49049392C>A NCBI36
NG_008146.1:g.190743G>T , LRG_536:g.190743G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.803G>T MANE Select ENSP00000384708.2:p.Ser268Ile
ENST00000304421.8:c.725G>T ENSP00000306780.4:p.Ser242Ile
ENST00000406846.6:c.803G>T ENSP00000384708.2:p.Ser268Ile
ENST00000454032.5:c.669-4783G>T ENSP00000415504.1:n.669-4783G>T
NM_000145.3:c.803G>T , LRG_536t1:c.803G>T NP_000136.2:p.Ser268Ile
NM_181446.2:c.725G>T NP_852111.2:p.Ser242Ile
XM_011532733.1:c.905G>T XP_011531035.1:p.Ser302Ile
XM_011532734.1:c.572G>T XP_011531036.1:p.Ser191Ile
XM_011532735.1:c.11G>T XP_011531037.1:p.Ser4Ile
XM_011532736.1:c.11G>T XP_011531038.1:p.Ser4Ile
XM_011532737.1:c.905G>T XP_011531039.1:p.Ser302Ile
XM_011532738.1:c.905G>T XP_011531040.1:p.Ser302Ile
XM_011532739.1:c.905G>T XP_011531041.1:p.Ser302Ile
XM_011532740.1:c.905G>T XP_011531042.1:p.Ser302Ile
XM_011532733.2:c.905G>T XP_011531035.1:p.Ser302Ile
XM_011532734.2:c.572G>T XP_011531036.1:p.Ser191Ile
XM_011532735.2:c.11G>T XP_011531037.1:p.Ser4Ile
XM_011532736.2:c.11G>T XP_011531038.1:p.Ser4Ile
NM_000145.4:c.803G>T MANE Select NP_000136.2:p.Ser268Ile
NM_181446.3:c.725G>T NP_852111.2:p.Ser242Ile