Canonical Allele Identifier: CA2938853
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1519153
ClinVar RCV Id: RCV002024394 RCV003225761
dbSNP Id: rs148499544
ExAC: 4:68606388 A / C
gnomAD v2: 4-68606388-A-C
gnomAD v3: 4-67740670-A-C
gnomAD v4: 4-67740670-A-C
MyVariant Identifiers: chr4:g.68606388A>C (hg19) chr4:g.67740670A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740670A>C , CM000666.2:g.67740670A>C GRCh38
NC_000004.11:g.68606388A>C , CM000666.1:g.68606388A>C GRCh37
NC_000004.10:g.68288983A>C NCBI36
NG_009293.1:g.20417T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.797T>G MANE Select ENSP00000226413.5:p.Leu266Arg
ENST00000226413.4:c.797T>G ENSP00000226413.4:p.Leu266Arg
ENST00000420975.2:c.669T>G ENSP00000397561.2:p.Ser223=
NM_000406.2:c.797T>G NP_000397.1:p.Leu266Arg
NM_001012763.1:c.669T>G NP_001012781.1:p.Ser223=
NM_000406.3:c.797T>G MANE Select NP_000397.1:p.Leu266Arg
NM_001012763.2:c.669T>G NP_001012781.1:p.Ser223=
Search 100 bp 5'
Search 100 bp 3'