Canonical Allele Identifier: CA185871
Gene: GNRHR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.67753986A>C
GRCh37 chr4:g.68619704A>C
Revel Score:
ENST00000226413 (MANE Select) 0.642
ENST00000420975 0.642
gnomAD v3:
4:67753986 A / C
gnomAD v4:
chr4-67753986-A-C
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000156945
RCV000995775
ClinVar Variation:
180147
dbSNP:
727505367
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67753986A>C , CM000666.2:g.67753986A>C GRCh38
NC_000004.11:g.68619704A>C , CM000666.1:g.68619704A>C GRCh37
NC_000004.10:g.68302299A>C NCBI36
NG_009293.1:g.7101T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.350T>G MANE Select ENSP00000226413.5:p.Leu117Arg
ENST00000226413.4:c.350T>G ENSP00000226413.4:p.Leu117Arg
ENST00000420975.2:c.350T>G ENSP00000397561.2:p.Leu117Arg
NM_000406.2:c.350T>G NP_000397.1:p.Leu117Arg
NM_001012763.1:c.350T>G NP_001012781.1:p.Leu117Arg
NM_000406.3:c.350T>G MANE Select NP_000397.1:p.Leu117Arg
NM_001012763.2:c.350T>G NP_001012781.1:p.Leu117Arg
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