Canonical Allele Identifier: CA1653677

Gene: FSHR

Linked Data

• ClinVar Variation Id: 336482
• ClinVar RCV Id: RCV000287736 ; RCV000345089 ; RCV002519983
• dbSNP Id: rs202162496
• ExAC: 2:49190630 C / T
• gnomAD v2: 2-49190630-C-T
• gnomAD v3: 2-48963491-C-T
• gnomAD v4: 2-48963491-C-T
• MyVariant Identifiers: chr2:g.49190630C>T (hg19) ; chr2:g.48963491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963491C>T , CM000664.2:g.48963491C>T	GRCh38
NC_000002.11:g.49190630C>T , CM000664.1:g.49190630C>T	GRCh37
NC_000002.10:g.49044134C>T	NCBI36
NG_008146.1:g.196001G>A , LRG_536:g.196001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1330G>A MANE Select	ENSP00000384708.2:p.Ala444Thr
ENST00000304421.8:c.1252G>A	ENSP00000306780.4:p.Ala418Thr
ENST00000406846.6:c.1330G>A	ENSP00000384708.2:p.Ala444Thr
NM_000145.3:c.1330G>A , LRG_536t1:c.1330G>A	NP_000136.2:p.Ala444Thr
NM_181446.2:c.1252G>A	NP_852111.2:p.Ala418Thr
XM_011532733.1:c.1432G>A	XP_011531035.1:p.Ala478Thr
XM_011532734.1:c.1099G>A	XP_011531036.1:p.Ala367Thr
XM_011532735.1:c.538G>A	XP_011531037.1:p.Ala180Thr
XM_011532736.1:c.538G>A	XP_011531038.1:p.Ala180Thr
XM_011532737.1:c.956+5207G>A	XP_011531039.1:n.956+5207G>A
XM_011532738.1:c.956+5207G>A	XP_011531040.1:n.956+5207G>A
XM_011532739.1:c.956+5207G>A	XP_011531041.1:n.956+5207G>A
XM_011532733.2:c.1432G>A	XP_011531035.1:p.Ala478Thr
XM_011532734.2:c.1099G>A	XP_011531036.1:p.Ala367Thr
XM_011532735.2:c.538G>A	XP_011531037.1:p.Ala180Thr
XM_011532736.2:c.538G>A	XP_011531038.1:p.Ala180Thr
NM_000145.4:c.1330G>A MANE Select	NP_000136.2:p.Ala444Thr
NM_181446.3:c.1252G>A	NP_852111.2:p.Ala418Thr