Canonical Allele Identifier: CA357056377
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 3004558
ClinVar RCV Id: RCV003860661
dbSNP Id: rs1490204113
gnomAD v2: 4-68619941-C-T
gnomAD v4: 4-67754223-C-T
MyVariant Identifiers: chr4:g.68619941C>T (hg19) chr4:g.67754223C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754223C>T , CM000666.2:g.67754223C>T GRCh38
NC_000004.11:g.68619941C>T , CM000666.1:g.68619941C>T GRCh37
NC_000004.10:g.68302536C>T NCBI36
NG_009293.1:g.6864G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.113G>A MANE Select ENSP00000226413.5:p.Arg38Gln
ENST00000226413.4:c.113G>A ENSP00000226413.4:p.Arg38Gln
ENST00000420975.2:c.113G>A ENSP00000397561.2:p.Arg38Gln
NM_000406.2:c.113G>A NP_000397.1:p.Arg38Gln
NM_001012763.1:c.113G>A NP_001012781.1:p.Arg38Gln
NM_000406.3:c.113G>A MANE Select NP_000397.1:p.Arg38Gln
NM_001012763.2:c.113G>A NP_001012781.1:p.Arg38Gln
Search 100 bp 5'
Search 100 bp 3'