Canonical Allele Identifier: CA2938854
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 2151986
ClinVar RCV Id: RCV003061549
dbSNP Id: rs753280668
ExAC: 4:68606401 G / A
gnomAD v2: 4-68606401-G-A
gnomAD v3: 4-67740683-G-A
gnomAD v4: 4-67740683-G-A
COSMIC: COSM1430602
MyVariant Identifiers: chr4:g.68606401G>A (hg19) chr4:g.67740683G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740683G>A , CM000666.2:g.67740683G>A GRCh38
NC_000004.11:g.68606401G>A , CM000666.1:g.68606401G>A GRCh37
NC_000004.10:g.68288996G>A NCBI36
NG_009293.1:g.20404C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.784C>T MANE Select ENSP00000226413.5:p.Arg262Trp
ENST00000226413.4:c.784C>T ENSP00000226413.4:p.Arg262Trp
ENST00000420975.2:c.656C>T ENSP00000397561.2:p.Thr219Met
NM_000406.2:c.784C>T NP_000397.1:p.Arg262Trp
NM_001012763.1:c.656C>T NP_001012781.1:p.Thr219Met
NM_000406.3:c.784C>T MANE Select NP_000397.1:p.Arg262Trp
NM_001012763.2:c.656C>T NP_001012781.1:p.Thr219Met
Search 100 bp 5'
Search 100 bp 3'