Canonical Allele Identifier: CA130209

Gene: GNRHR

Linked Data

• ClinVar Variation Id: 16032
• ClinVar RCV Id: RCV000030916 ; RCV001560549
• dbSNP Id: rs104893844
• ExAC: 4:68619786 C / T
• gnomAD v2: 4-68619786-C-T
• gnomAD v3: 4-67754068-C-T
• gnomAD v4: 4-67754068-C-T
• MyVariant Identifiers: chr4:g.68619786C>T (hg19) ; chr4:g.67754068C>T (hg38)
• PubMed: PMID:11318785 ; PMID:11994356

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67754068C>T , CM000666.2:g.67754068C>T	GRCh38
NC_000004.11:g.68619786C>T , CM000666.1:g.68619786C>T	GRCh37
NC_000004.10:g.68302381C>T	NCBI36
NG_009293.1:g.7019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226413.5:c.268G>A MANE Select	ENSP00000226413.5:p.Glu90Lys
ENST00000226413.4:c.268G>A	ENSP00000226413.4:p.Glu90Lys
ENST00000420975.2:c.268G>A	ENSP00000397561.2:p.Glu90Lys
NM_000406.2:c.268G>A	NP_000397.1:p.Glu90Lys
NM_001012763.1:c.268G>A	NP_001012781.1:p.Glu90Lys
NM_000406.3:c.268G>A MANE Select	NP_000397.1:p.Glu90Lys
NM_001012763.2:c.268G>A	NP_001012781.1:p.Glu90Lys