Canonical Allele Identifier: CA2938834
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs767883295
ExAC: 4:68606231 A / C
gnomAD v2: 4-68606231-A-C
gnomAD v3: 4-67740513-A-C
gnomAD v4: 4-67740513-A-C
MyVariant Identifiers: chr4:g.68606231A>C (hg19) chr4:g.67740513A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740513A>C , CM000666.2:g.67740513A>C GRCh38
NC_000004.11:g.68606231A>C , CM000666.1:g.68606231A>C GRCh37
NC_000004.10:g.68288826A>C NCBI36
NG_009293.1:g.20574T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.954T>G MANE Select ENSP00000226413.5:p.Phe318Leu
ENST00000226413.4:c.954T>G ENSP00000226413.4:p.Phe318Leu
ENST00000420975.2:c.826T>G ENSP00000397561.2:n.826T>G
NM_000406.2:c.954T>G NP_000397.1:p.Phe318Leu
NM_001012763.1:c.*76T>G NP_001012781.1:n.*76T>G
NM_000406.3:c.954T>G MANE Select NP_000397.1:p.Phe318Leu
NM_001012763.2:c.*76T>G NP_001012781.1:n.*76T>G
Search 100 bp 5'
Search 100 bp 3'