Canonical Allele Identifier: CA426125639

Gene: FSHR

Linked Data

• dbSNP Id: rs778915696
• gnomAD v4: 2-48963573-C-T
• MyVariant Identifiers: chr2:g.49190712C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963573C>T , CM000664.2:g.48963573C>T	GRCh38
NC_000002.11:g.49190712C>T , CM000664.1:g.49190712C>T	GRCh37
NC_000002.10:g.49044216C>T	NCBI36
NG_008146.1:g.195919G>A , LRG_536:g.195919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1248G>A MANE Select	ENSP00000384708.2:p.Leu416=
ENST00000304421.8:c.1170G>A	ENSP00000306780.4:p.Leu390=
ENST00000406846.6:c.1248G>A	ENSP00000384708.2:p.Leu416=
NM_000145.3:c.1248G>A , LRG_536t1:c.1248G>A	NP_000136.2:p.Leu416=
NM_181446.2:c.1170G>A	NP_852111.2:p.Leu390=
XM_011532733.1:c.1350G>A	XP_011531035.1:p.Leu450=
XM_011532734.1:c.1017G>A	XP_011531036.1:p.Leu339=
XM_011532735.1:c.456G>A	XP_011531037.1:p.Leu152=
XM_011532736.1:c.456G>A	XP_011531038.1:p.Leu152=
XM_011532737.1:c.956+5125G>A	XP_011531039.1:n.956+5125G>A
XM_011532738.1:c.956+5125G>A	XP_011531040.1:n.956+5125G>A
XM_011532739.1:c.956+5125G>A	XP_011531041.1:n.956+5125G>A
XM_011532733.2:c.1350G>A	XP_011531035.1:p.Leu450=
XM_011532734.2:c.1017G>A	XP_011531036.1:p.Leu339=
XM_011532735.2:c.456G>A	XP_011531037.1:p.Leu152=
XM_011532736.2:c.456G>A	XP_011531038.1:p.Leu152=
NM_000145.4:c.1248G>A MANE Select	NP_000136.2:p.Leu416=
NM_181446.3:c.1170G>A	NP_852111.2:p.Leu390=