Canonical Allele Identifier: CA2576964283
Gene: FSHR HGNC NCBI

Linked Data

gnomAD v4: 2-49154460-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.49154460G>A , CM000664.2:g.49154460G>A GRCh38
NC_000002.11:g.49381599G>A , CM000664.1:g.49381599G>A GRCh37
NC_000002.10:g.49235103G>A NCBI36
NG_008146.1:g.5032C>T , LRG_536:g.5032C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.-43C>T MANE Select ENSP00000384708.2:n.-43C>T
ENST00000304421.8:c.-43C>T ENSP00000306780.4:n.-43C>T
ENST00000406846.6:c.-43C>T ENSP00000384708.2:n.-43C>T
ENST00000419927.1:c.-43C>T ENSP00000405775.1:n.-43C>T
NM_000145.3:c.-43C>T , LRG_536t1:c.-43C>T NP_000136.2:n.-43C>T
NM_181446.2:c.-43C>T NP_852111.2:n.-43C>T
XM_011532733.1:c.-43C>T XP_011531035.1:n.-43C>T
XM_011532734.1:c.-627C>T XP_011531036.1:n.-627C>T
XM_011532737.1:c.-43C>T XP_011531039.1:n.-43C>T
XM_011532738.1:c.-43C>T XP_011531040.1:n.-43C>T
XM_011532739.1:c.-43C>T XP_011531041.1:n.-43C>T
XM_011532740.1:c.-43C>T XP_011531042.1:n.-43C>T
XM_011532733.2:c.-43C>T XP_011531035.1:n.-43C>T
XM_011532734.2:c.-627C>T XP_011531036.1:n.-627C>T
NM_000145.4:c.-43C>T MANE Select NP_000136.2:n.-43C>T
NM_181446.3:c.-43C>T NP_852111.2:n.-43C>T