Canonical Allele Identifier: CA126302
Gene: FSHR HGNC NCBI
COSMIC:
COSM3927764 (not active)
MyVariant.info:
GRCh38 chr2:g.48963902C>T
GRCh37 chr2:g.49191041C>T
Revel Score:
ENST00000406846 (MANE Select) 0.049
ENST00000346173 0.049
ENST00000304421 0.049
ENST00000541117 0.049
ENST00000454032 0.049
gnomAD v2:
2:49191041 C / T
gnomAD v3:
2:48963902 C / T
gnomAD v4:
chr2-48963902-C-T
Joint Max Group AF 0.64557919 (AMR)
Genomes Max Group AF 0.64705345 (EAS)
Exomes Max Group AF 0.66811731 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48963902C>T , CM000664.2:g.48963902C>T GRCh38
NC_000002.11:g.49191041C>T , CM000664.1:g.49191041C>T GRCh37
NC_000002.10:g.49044545C>T NCBI36
NG_008146.1:g.195590G>A , LRG_536:g.195590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.919G>A MANE Select ENSP00000384708.2:p.Ala307Thr
ENST00000304421.8:c.841G>A ENSP00000306780.4:p.Ala281Thr
ENST00000406846.6:c.919G>A ENSP00000384708.2:p.Ala307Thr
ENST00000454032.5:c.733G>A ENSP00000415504.1:p.Ala245Thr
NM_000145.3:c.919G>A , LRG_536t1:c.919G>A NP_000136.2:p.Ala307Thr
NM_181446.2:c.841G>A NP_852111.2:p.Ala281Thr
XM_011532733.1:c.1021G>A XP_011531035.1:p.Ala341Thr
XM_011532734.1:c.688G>A XP_011531036.1:p.Ala230Thr
XM_011532735.1:c.127G>A XP_011531037.1:p.Ala43Thr
XM_011532736.1:c.127G>A XP_011531038.1:p.Ala43Thr
XM_011532737.1:c.956+4796G>A XP_011531039.1:n.956+4796G>A
XM_011532738.1:c.956+4796G>A XP_011531040.1:n.956+4796G>A
XM_011532739.1:c.956+4796G>A XP_011531041.1:n.956+4796G>A
XM_011532733.2:c.1021G>A XP_011531035.1:p.Ala341Thr
XM_011532734.2:c.688G>A XP_011531036.1:p.Ala230Thr
XM_011532735.2:c.127G>A XP_011531037.1:p.Ala43Thr
XM_011532736.2:c.127G>A XP_011531038.1:p.Ala43Thr
NM_000145.4:c.919G>A MANE Select NP_000136.2:p.Ala307Thr
NM_181446.3:c.841G>A NP_852111.2:p.Ala281Thr
Search 100 bp 5'
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