Canonical Allele Identifier: CA357054682
Gene: GNRHR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.67753950G>A
GRCh37 chr4:g.68619668G>A
Revel Score:
ENST00000226413 (MANE Select) 0.555
ENST00000420975 0.555
gnomAD v2:
4:68619668 G / A
gnomAD v4:
chr4-67753950-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV004587755
ClinVar Variation:
3251349
dbSNP:
104893838
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67753950G>A , CM000666.2:g.67753950G>A GRCh38
NC_000004.11:g.68619668G>A , CM000666.1:g.68619668G>A GRCh37
NC_000004.10:g.68302263G>A NCBI36
NG_009293.1:g.7137C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.386C>T MANE Select ENSP00000226413.5:p.Ala129Val
ENST00000226413.4:c.386C>T ENSP00000226413.4:p.Ala129Val
ENST00000420975.2:c.386C>T ENSP00000397561.2:p.Ala129Val
NM_000406.2:c.386C>T NP_000397.1:p.Ala129Val
NM_001012763.1:c.386C>T NP_001012781.1:p.Ala129Val
NM_000406.3:c.386C>T MANE Select NP_000397.1:p.Ala129Val
NM_001012763.2:c.386C>T NP_001012781.1:p.Ala129Val
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