Canonical Allele Identifier: CA357047869
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs763161932
gnomAD v3: 4-67740631-C-A
gnomAD v4: 4-67740631-C-A
MyVariant Identifiers: chr4:g.68606349C>A (hg19) chr4:g.67740631C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740631C>A , CM000666.2:g.67740631C>A GRCh38
NC_000004.11:g.68606349C>A , CM000666.1:g.68606349C>A GRCh37
NC_000004.10:g.68288944C>A NCBI36
NG_009293.1:g.20456G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.836G>T MANE Select ENSP00000226413.5:p.Cys279Phe
ENST00000226413.4:c.836G>T ENSP00000226413.4:p.Cys279Phe
ENST00000420975.2:c.708G>T ENSP00000397561.2:p.Leu236=
NM_000406.2:c.836G>T NP_000397.1:p.Cys279Phe
NM_001012763.1:c.708G>T NP_001012781.1:p.Leu236=
NM_000406.3:c.836G>T MANE Select NP_000397.1:p.Cys279Phe
NM_001012763.2:c.708G>T NP_001012781.1:p.Leu236=
Search 100 bp 5'
Search 100 bp 3'