Canonical Allele Identifier: CA2658999276
Gene: FSHR HGNC NCBI

Linked Data

gnomAD v4: 2-49154469-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.49154469C>A , CM000664.2:g.49154469C>A GRCh38
NC_000002.11:g.49381608C>A , CM000664.1:g.49381608C>A GRCh37
NC_000002.10:g.49235112C>A NCBI36
NG_008146.1:g.5023G>T , LRG_536:g.5023G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.-52G>T MANE Select ENSP00000384708.2:n.-52G>T
ENST00000304421.8:c.-52G>T ENSP00000306780.4:n.-52G>T
ENST00000406846.6:c.-52G>T ENSP00000384708.2:n.-52G>T
ENST00000419927.1:c.-52G>T ENSP00000405775.1:n.-52G>T
NM_000145.3:c.-52G>T , LRG_536t1:c.-52G>T NP_000136.2:n.-52G>T
NM_181446.2:c.-52G>T NP_852111.2:n.-52G>T
XM_011532733.1:c.-52G>T XP_011531035.1:n.-52G>T
XM_011532734.1:c.-636G>T XP_011531036.1:n.-636G>T
XM_011532737.1:c.-52G>T XP_011531039.1:n.-52G>T
XM_011532738.1:c.-52G>T XP_011531040.1:n.-52G>T
XM_011532739.1:c.-52G>T XP_011531041.1:n.-52G>T
XM_011532740.1:c.-52G>T XP_011531042.1:n.-52G>T
XM_011532733.2:c.-52G>T XP_011531035.1:n.-52G>T
XM_011532734.2:c.-636G>T XP_011531036.1:n.-636G>T
NM_000145.4:c.-52G>T MANE Select NP_000136.2:n.-52G>T
NM_181446.3:c.-52G>T NP_852111.2:n.-52G>T