Canonical Allele Identifier: CA1653674
Gene: FSHR HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48963475G>T , CM000664.2:g.48963475G>T GRCh38
NC_000002.11:g.49190614G>T , CM000664.1:g.49190614G>T GRCh37
NC_000002.10:g.49044118G>T NCBI36
NG_008146.1:g.196017C>A , LRG_536:g.196017C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.1346C>A MANE Select ENSP00000384708.2:p.Thr449Asn
ENST00000304421.8:c.1268C>A ENSP00000306780.4:p.Thr423Asn
ENST00000406846.6:c.1346C>A ENSP00000384708.2:p.Thr449Asn
NM_000145.3:c.1346C>A , LRG_536t1:c.1346C>A NP_000136.2:p.Thr449Asn
NM_181446.2:c.1268C>A NP_852111.2:p.Thr423Asn
XM_011532733.1:c.1448C>A XP_011531035.1:p.Thr483Asn
XM_011532734.1:c.1115C>A XP_011531036.1:p.Thr372Asn
XM_011532735.1:c.554C>A XP_011531037.1:p.Thr185Asn
XM_011532736.1:c.554C>A XP_011531038.1:p.Thr185Asn
XM_011532737.1:c.956+5223C>A XP_011531039.1:n.956+5223C>A
XM_011532738.1:c.956+5223C>A XP_011531040.1:n.956+5223C>A
XM_011532739.1:c.956+5223C>A XP_011531041.1:n.956+5223C>A
XM_011532733.2:c.1448C>A XP_011531035.1:p.Thr483Asn
XM_011532734.2:c.1115C>A XP_011531036.1:p.Thr372Asn
XM_011532735.2:c.554C>A XP_011531037.1:p.Thr185Asn
XM_011532736.2:c.554C>A XP_011531038.1:p.Thr185Asn
NM_000145.4:c.1346C>A MANE Select NP_000136.2:p.Thr449Asn
NM_181446.3:c.1268C>A NP_852111.2:p.Thr423Asn