Canonical Allele Identifier: CA269461
Gene: GNRHR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.67754242T>C
GRCh37 chr4:g.68619960T>C
Revel Score:
ENST00000226413 (MANE Select) 0.097
ENST00000420975 0.097
gnomAD v2:
4:68619960 T / C
gnomAD v3:
4:67754242 T / C
gnomAD v4:
chr4-67754242-T-C
Joint Max Group AF 0.00011838 (SAS)
Genomes Max Group AF 0.00007293 (SAS)
Exomes Max Group AF 0.00010712 (SAS)
ClinVar RCV:
RCV000114425
ClinVar Variation:
126541
dbSNP:
515726219
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754242T>C , CM000666.2:g.67754242T>C GRCh38
NC_000004.11:g.68619960T>C , CM000666.1:g.68619960T>C GRCh37
NC_000004.10:g.68302555T>C NCBI36
NG_009293.1:g.6845A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.94A>G MANE Select ENSP00000226413.5:p.Thr32Ala
ENST00000226413.4:c.94A>G ENSP00000226413.4:p.Thr32Ala
ENST00000420975.2:c.94A>G ENSP00000397561.2:p.Thr32Ala
NM_000406.2:c.94A>G NP_000397.1:p.Thr32Ala
NM_001012763.1:c.94A>G NP_001012781.1:p.Thr32Ala
NM_000406.3:c.94A>G MANE Select NP_000397.1:p.Thr32Ala
NM_001012763.2:c.94A>G NP_001012781.1:p.Thr32Ala
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