Canonical Allele Identifier: CA357048388

Gene: GNRHR

Linked Data

• dbSNP Id: rs1731642852
• gnomAD v4: 4-67740688-C-T
• MyVariant Identifiers: chr4:g.68606406C>T (hg19) ; chr4:g.67740688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67740688C>T , CM000666.2:g.67740688C>T	GRCh38
NC_000004.11:g.68606406C>T , CM000666.1:g.68606406C>T	GRCh37
NC_000004.10:g.68289001C>T	NCBI36
NG_009293.1:g.20399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226413.5:c.779G>A MANE Select	ENSP00000226413.5:p.Arg260Lys
ENST00000226413.4:c.779G>A	ENSP00000226413.4:p.Arg260Lys
ENST00000420975.2:c.651G>A	ENSP00000397561.2:p.Lys217=
NM_000406.2:c.779G>A	NP_000397.1:p.Arg260Lys
NM_001012763.1:c.651G>A	NP_001012781.1:p.Lys217=
NM_000406.3:c.779G>A MANE Select	NP_000397.1:p.Arg260Lys
NM_001012763.2:c.651G>A	NP_001012781.1:p.Lys217=