Canonical Allele Identifier: CA1030404004
Gene: FSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.49065223C>G , CM000664.2:g.49065223C>G GRCh38
NC_000002.11:g.49292362C>G , CM000664.1:g.49292362C>G GRCh37
NC_000002.10:g.49145866C>G NCBI36
NG_008146.1:g.94269G>C , LRG_536:g.94269G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.224+2996G>C MANE Select ENSP00000384708.2:n.224+2996G>C
ENST00000304421.8:c.224+2996G>C ENSP00000306780.4:n.224+2996G>C
ENST00000406846.6:c.224+2996G>C ENSP00000384708.2:n.224+2996G>C
ENST00000419927.1:c.224+2996G>C ENSP00000405775.1:n.224+2996G>C
ENST00000454032.5:c.224+2996G>C ENSP00000415504.1:n.224+2996G>C
NM_000145.3:c.224+2996G>C , LRG_536t1:c.224+2996G>C NP_000136.2:n.224+2996G>C
NM_181446.2:c.224+2996G>C NP_852111.2:n.224+2996G>C
XM_011532733.1:c.224+2996G>C XP_011531035.1:n.224+2996G>C
XM_011532734.1:c.-361+2996G>C XP_011531036.1:n.-361+2996G>C
XM_011532737.1:c.224+2996G>C XP_011531039.1:n.224+2996G>C
XM_011532738.1:c.224+2996G>C XP_011531040.1:n.224+2996G>C
XM_011532739.1:c.224+2996G>C XP_011531041.1:n.224+2996G>C
XM_011532740.1:c.224+2996G>C XP_011531042.1:n.224+2996G>C
XM_011532733.2:c.224+2996G>C XP_011531035.1:n.224+2996G>C
XM_011532734.2:c.-361+2996G>C XP_011531036.1:n.-361+2996G>C
NM_000145.4:c.224+2996G>C MANE Select NP_000136.2:n.224+2996G>C
NM_181446.3:c.224+2996G>C NP_852111.2:n.224+2996G>C