Canonical Allele Identifier: CA2938969
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 3100699
ClinVar RCV Id: RCV004395576
dbSNP Id: rs759210877
ExAC: 4:68619829 T / G
gnomAD v2: 4-68619829-T-G
gnomAD v3: 4-67754111-T-G
gnomAD v4: 4-67754111-T-G
MyVariant Identifiers: chr4:g.68619829T>G (hg19) chr4:g.67754111T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754111T>G , CM000666.2:g.67754111T>G GRCh38
NC_000004.11:g.68619829T>G , CM000666.1:g.68619829T>G GRCh37
NC_000004.10:g.68302424T>G NCBI36
NG_009293.1:g.6976A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.225A>C MANE Select ENSP00000226413.5:p.Arg75Ser
ENST00000226413.4:c.225A>C ENSP00000226413.4:p.Arg75Ser
ENST00000420975.2:c.225A>C ENSP00000397561.2:p.Arg75Ser
NM_000406.2:c.225A>C NP_000397.1:p.Arg75Ser
NM_001012763.1:c.225A>C NP_001012781.1:p.Arg75Ser
NM_000406.3:c.225A>C MANE Select NP_000397.1:p.Arg75Ser
NM_001012763.2:c.225A>C NP_001012781.1:p.Arg75Ser
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