Canonical Allele Identifier: CA357048005
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1367186
ClinVar RCV Id: RCV001962247
dbSNP Id: rs1731641349
gnomAD v4: 4-67740647-T-C
MyVariant Identifiers: chr4:g.68606365T>C (hg19) chr4:g.67740647T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740647T>C , CM000666.2:g.67740647T>C GRCh38
NC_000004.11:g.68606365T>C , CM000666.1:g.68606365T>C GRCh37
NC_000004.10:g.68288960T>C NCBI36
NG_009293.1:g.20440A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.820A>G MANE Select ENSP00000226413.5:p.Thr274Ala
ENST00000226413.4:c.820A>G ENSP00000226413.4:p.Thr274Ala
ENST00000420975.2:c.692A>G ENSP00000397561.2:p.His231Arg
NM_000406.2:c.820A>G NP_000397.1:p.Thr274Ala
NM_001012763.1:c.692A>G NP_001012781.1:p.His231Arg
NM_000406.3:c.820A>G MANE Select NP_000397.1:p.Thr274Ala
NM_001012763.2:c.692A>G NP_001012781.1:p.His231Arg
Search 100 bp 5'
Search 100 bp 3'