Canonical Allele Identifier: CA2938987
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 785094
ClinVar RCV Id: RCV000966915 RCV001153044
dbSNP Id: rs35400155
ExAC: 4:68619910 G / C
gnomAD v2: 4-68619910-G-C
gnomAD v3: 4-67754192-G-C
gnomAD v4: 4-67754192-G-C
MyVariant Identifiers: chr4:g.68619910G>C (hg19) chr4:g.67754192G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754192G>C , CM000666.2:g.67754192G>C GRCh38
NC_000004.11:g.68619910G>C , CM000666.1:g.68619910G>C GRCh37
NC_000004.10:g.68302505G>C NCBI36
NG_009293.1:g.6895C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.144C>G MANE Select ENSP00000226413.5:p.Leu48=
ENST00000226413.4:c.144C>G ENSP00000226413.4:p.Leu48=
ENST00000420975.2:c.144C>G ENSP00000397561.2:p.Leu48=
NM_000406.2:c.144C>G NP_000397.1:p.Leu48=
NM_001012763.1:c.144C>G NP_001012781.1:p.Leu48=
NM_000406.3:c.144C>G MANE Select NP_000397.1:p.Leu48=
NM_001012763.2:c.144C>G NP_001012781.1:p.Leu48=
Search 100 bp 5'
Search 100 bp 3'