Canonical Allele Identifier: CA1030399448

Gene: FSHR

Linked Data

• dbSNP Id: rs1675312190
• gnomAD v3: 2-48982822-T-G
• gnomAD v4: 2-48982822-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48982822T>G , CM000664.2:g.48982822T>G	GRCh38
NC_000002.11:g.49209961T>G , CM000664.1:g.49209961T>G	GRCh37
NC_000002.10:g.49063465T>G	NCBI36
NG_008146.1:g.176670A>C , LRG_536:g.176670A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000406846.7:c.668+90A>C MANE Select	ENSP00000384708.2:n.668+90A>C
ENST00000304421.8:c.590+90A>C	ENSP00000306780.4:n.590+90A>C
ENST00000406846.6:c.668+90A>C	ENSP00000384708.2:n.668+90A>C
ENST00000454032.5:c.668+90A>C	ENSP00000415504.1:n.668+90A>C
ENST00000469138.5:n.429+90A>C
NM_000145.3:c.668+90A>C , LRG_536t1:c.668+90A>C	NP_000136.2:n.668+90A>C
NM_181446.2:c.590+90A>C	NP_852111.2:n.590+90A>C
XM_011532733.1:c.668+90A>C	XP_011531035.1:n.668+90A>C
XM_011532734.1:c.335+90A>C	XP_011531036.1:n.335+90A>C
XM_011532735.1:c.-227+90A>C	XP_011531037.1:n.-227+90A>C
XM_011532736.1:c.-125+90A>C	XP_011531038.1:n.-125+90A>C
XM_011532737.1:c.668+90A>C	XP_011531039.1:n.668+90A>C
XM_011532738.1:c.668+90A>C	XP_011531040.1:n.668+90A>C
XM_011532739.1:c.668+90A>C	XP_011531041.1:n.668+90A>C
XM_011532740.1:c.668+90A>C	XP_011531042.1:n.668+90A>C
XM_011532733.2:c.668+90A>C	XP_011531035.1:n.668+90A>C
XM_011532734.2:c.335+90A>C	XP_011531036.1:n.335+90A>C
XM_011532735.2:c.-227+90A>C	XP_011531037.1:n.-227+90A>C
XM_011532736.2:c.-125+90A>C	XP_011531038.1:n.-125+90A>C
NM_000145.4:c.668+90A>C MANE Select	NP_000136.2:n.668+90A>C
NM_181446.3:c.590+90A>C	NP_852111.2:n.590+90A>C