Canonical Allele Identifier: CA290966
Gene: FSHR HGNC NCBI
COSMIC:
COSN1842924 (not active)
MyVariant.info:
GRCh38 chr2:g.49154446C>T
GRCh37 chr2:g.49381585C>T
gnomAD v2:
2:49381585 C / T
gnomAD v3:
2:49154446 C / T
gnomAD v4:
chr2-49154446-C-T
Joint Max Group AF 0.47383112 (EAS)
Genomes Max Group AF 0.45709826 (EAS)
Exomes Max Group AF 0.47432368 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.49154446C>T , CM000664.2:g.49154446C>T GRCh38
NC_000002.11:g.49381585C>T , CM000664.1:g.49381585C>T GRCh37
NC_000002.10:g.49235089C>T NCBI36
NG_008146.1:g.5046G>A , LRG_536:g.5046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.-29G>A MANE Select ENSP00000384708.2:n.-29G>A
ENST00000304421.8:c.-29G>A ENSP00000306780.4:n.-29G>A
ENST00000406846.6:c.-29G>A ENSP00000384708.2:n.-29G>A
ENST00000419927.1:c.-29G>A ENSP00000405775.1:n.-29G>A
NM_000145.3:c.-29G>A , LRG_536t1:c.-29G>A NP_000136.2:n.-29G>A
NM_181446.2:c.-29G>A NP_852111.2:n.-29G>A
XM_011532733.1:c.-29G>A XP_011531035.1:n.-29G>A
XM_011532734.1:c.-613G>A XP_011531036.1:n.-613G>A
XM_011532737.1:c.-29G>A XP_011531039.1:n.-29G>A
XM_011532738.1:c.-29G>A XP_011531040.1:n.-29G>A
XM_011532739.1:c.-29G>A XP_011531041.1:n.-29G>A
XM_011532740.1:c.-29G>A XP_011531042.1:n.-29G>A
XM_011532733.2:c.-29G>A XP_011531035.1:n.-29G>A
XM_011532734.2:c.-613G>A XP_011531036.1:n.-613G>A
NM_000145.4:c.-29G>A MANE Select NP_000136.2:n.-29G>A
NM_181446.3:c.-29G>A NP_852111.2:n.-29G>A
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