Canonical Allele Identifier: CA269995
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 140611
ClinVar RCV Id: RCV000128827
dbSNP Id: rs369176613
ExAC: 4:68606379 G / A
gnomAD v2: 4-68606379-G-A
gnomAD v3: 4-67740661-G-A
gnomAD v4: 4-67740661-G-A
MyVariant Identifiers: chr4:g.68606379G>A (hg19) chr4:g.67740661G>A (hg38)
PubMed: PMID:22745237
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740661G>A , CM000666.2:g.67740661G>A GRCh38
NC_000004.11:g.68606379G>A , CM000666.1:g.68606379G>A GRCh37
NC_000004.10:g.68288974G>A NCBI36
NG_009293.1:g.20426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.806C>T MANE Select ENSP00000226413.5:p.Thr269Met
ENST00000226413.4:c.806C>T ENSP00000226413.4:p.Thr269Met
ENST00000420975.2:c.678C>T ENSP00000397561.2:p.Asp226=
NM_000406.2:c.806C>T NP_000397.1:p.Thr269Met
NM_001012763.1:c.678C>T NP_001012781.1:p.Asp226=
NM_000406.3:c.806C>T MANE Select NP_000397.1:p.Thr269Met
NM_001012763.2:c.678C>T NP_001012781.1:p.Asp226=
Search 100 bp 5'
Search 100 bp 3'