Canonical Allele Identifier: CA439930676
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 904870
ClinVar RCV Id: RCV001153042
dbSNP Id: rs1245052683
gnomAD v2: 4-68619655-C-T
gnomAD v3: 4-67753937-C-T
gnomAD v4: 4-67753937-C-T
MyVariant Identifiers: chr4:g.68619655C>T (hg19) chr4:g.67753937C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67753937C>T , CM000666.2:g.67753937C>T GRCh38
NC_000004.11:g.68619655C>T , CM000666.1:g.68619655C>T GRCh37
NC_000004.10:g.68302250C>T NCBI36
NG_009293.1:g.7150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.399G>A MANE Select ENSP00000226413.5:p.Val133=
ENST00000226413.4:c.399G>A ENSP00000226413.4:p.Val133=
ENST00000420975.2:c.399G>A ENSP00000397561.2:p.Val133=
NM_000406.2:c.399G>A NP_000397.1:p.Val133=
NM_001012763.1:c.399G>A NP_001012781.1:p.Val133=
NM_000406.3:c.399G>A MANE Select NP_000397.1:p.Val133=
NM_001012763.2:c.399G>A NP_001012781.1:p.Val133=
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