Canonical Allele Identifier: CA357048564
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 3100701
ClinVar RCV Id: RCV004395578
dbSNP Id: rs746861473
gnomAD v4: 4-67740721-A-G
MyVariant Identifiers: chr4:g.68606439A>G (hg19) chr4:g.67740721A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740721A>G , CM000666.2:g.67740721A>G GRCh38
NC_000004.11:g.68606439A>G , CM000666.1:g.68606439A>G GRCh37
NC_000004.10:g.68289034A>G NCBI36
NG_009293.1:g.20366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.746T>C MANE Select ENSP00000226413.5:p.Leu249Pro
ENST00000226413.4:c.746T>C ENSP00000226413.4:p.Leu249Pro
ENST00000420975.2:c.618T>C ENSP00000397561.2:p.Thr206=
NM_000406.2:c.746T>C NP_000397.1:p.Leu249Pro
NM_001012763.1:c.618T>C NP_001012781.1:p.Thr206=
NM_000406.3:c.746T>C MANE Select NP_000397.1:p.Leu249Pro
NM_001012763.2:c.618T>C NP_001012781.1:p.Thr206=
Search 100 bp 5'
Search 100 bp 3'