Canonical Allele Identifier: CA144118
Gene: FSHR HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.48963778G>C
GRCh37 chr2:g.49190917G>C
Revel Score:
ENST00000406846 (MANE Select) 0.929
ENST00000346173 0.929
ENST00000304421 0.929
ENST00000541117 0.929
gnomAD v2:
2:49190917 G / C
gnomAD v3:
2:48963778 G / C
gnomAD v4:
chr2-48963778-G-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000049439
ClinVar Variation:
56030
dbSNP:
386833510
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48963778G>C , CM000664.2:g.48963778G>C GRCh38
NC_000002.11:g.49190917G>C , CM000664.1:g.49190917G>C GRCh37
NC_000002.10:g.49044421G>C NCBI36
NG_008146.1:g.195714C>G , LRG_536:g.195714C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.1043C>G MANE Select ENSP00000384708.2:p.Pro348Arg
ENST00000304421.8:c.965C>G ENSP00000306780.4:p.Pro322Arg
ENST00000406846.6:c.1043C>G ENSP00000384708.2:p.Pro348Arg
NM_000145.3:c.1043C>G , LRG_536t1:c.1043C>G NP_000136.2:p.Pro348Arg
NM_181446.2:c.965C>G NP_852111.2:p.Pro322Arg
XM_011532733.1:c.1145C>G XP_011531035.1:p.Pro382Arg
XM_011532734.1:c.812C>G XP_011531036.1:p.Pro271Arg
XM_011532735.1:c.251C>G XP_011531037.1:p.Pro84Arg
XM_011532736.1:c.251C>G XP_011531038.1:p.Pro84Arg
XM_011532737.1:c.956+4920C>G XP_011531039.1:n.956+4920C>G
XM_011532738.1:c.956+4920C>G XP_011531040.1:n.956+4920C>G
XM_011532739.1:c.956+4920C>G XP_011531041.1:n.956+4920C>G
XM_011532733.2:c.1145C>G XP_011531035.1:p.Pro382Arg
XM_011532734.2:c.812C>G XP_011531036.1:p.Pro271Arg
XM_011532735.2:c.251C>G XP_011531037.1:p.Pro84Arg
XM_011532736.2:c.251C>G XP_011531038.1:p.Pro84Arg
NM_000145.4:c.1043C>G MANE Select NP_000136.2:p.Pro348Arg
NM_181446.3:c.965C>G NP_852111.2:p.Pro322Arg
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