Canonical Allele Identifier: CA346767215

Gene: FSHR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963187A>T , CM000664.2:g.48963187A>T	GRCh38
NC_000002.11:g.49190326A>T , CM000664.1:g.49190326A>T	GRCh37
NC_000002.10:g.49043830A>T	NCBI36
NG_008146.1:g.196305T>A , LRG_536:g.196305T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1634T>A MANE Select	ENSP00000384708.2:p.Ile545Asn
ENST00000304421.8:c.1556T>A	ENSP00000306780.4:p.Ile519Asn
ENST00000406846.6:c.1634T>A	ENSP00000384708.2:p.Ile545Asn
NM_000145.3:c.1634T>A , LRG_536t1:c.1634T>A	NP_000136.2:p.Ile545Asn
NM_181446.2:c.1556T>A	NP_852111.2:p.Ile519Asn
XM_011532733.1:c.1736T>A	XP_011531035.1:p.Ile579Asn
XM_011532734.1:c.1403T>A	XP_011531036.1:p.Ile468Asn
XM_011532735.1:c.842T>A	XP_011531037.1:p.Ile281Asn
XM_011532736.1:c.842T>A	XP_011531038.1:p.Ile281Asn
XM_011532737.1:c.956+5511T>A	XP_011531039.1:n.956+5511T>A
XM_011532738.1:c.956+5511T>A	XP_011531040.1:n.956+5511T>A
XM_011532739.1:c.956+5511T>A	XP_011531041.1:n.956+5511T>A
XM_011532733.2:c.1736T>A	XP_011531035.1:p.Ile579Asn
XM_011532734.2:c.1403T>A	XP_011531036.1:p.Ile468Asn
XM_011532735.2:c.842T>A	XP_011531037.1:p.Ile281Asn
XM_011532736.2:c.842T>A	XP_011531038.1:p.Ile281Asn
NM_000145.4:c.1634T>A MANE Select	NP_000136.2:p.Ile545Asn
NM_181446.3:c.1556T>A	NP_852111.2:p.Ile519Asn