Canonical Allele Identifier: CA2939019
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 2203548
ClinVar RCV Id: RCV002664343
dbSNP Id: rs768079550
ExAC: 4:68620052 A / G
gnomAD v2: 4-68620052-A-G
gnomAD v3: 4-67754334-A-G
gnomAD v4: 4-67754334-A-G
MyVariant Identifiers: chr4:g.68620052A>G (hg19) chr4:g.67754334A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754334A>G , CM000666.2:g.67754334A>G GRCh38
NC_000004.11:g.68620052A>G , CM000666.1:g.68620052A>G GRCh37
NC_000004.10:g.68302647A>G NCBI36
NG_009293.1:g.6753T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.2T>C MANE Select ENSP00000226413.5:p.Met1Thr
ENST00000226413.4:c.2T>C ENSP00000226413.4:p.Met1Thr
ENST00000420975.2:c.2T>C ENSP00000397561.2:p.Met1Thr
NM_000406.2:c.2T>C NP_000397.1:p.Met1Thr
NM_001012763.1:c.2T>C NP_001012781.1:p.Met1Thr
NM_000406.3:c.2T>C MANE Select NP_000397.1:p.Met1Thr
NM_001012763.2:c.2T>C NP_001012781.1:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'