Canonical Allele Identifier: CA357047839
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 2079685
ClinVar RCV Id: RCV002998711
MyVariant Identifiers: chr4:g.68606345C>G (hg19) chr4:g.67740627C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740627C>G , CM000666.2:g.67740627C>G GRCh38
NC_000004.11:g.68606345C>G , CM000666.1:g.68606345C>G GRCh37
NC_000004.10:g.68288940C>G NCBI36
NG_009293.1:g.20460G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.840G>C MANE Select ENSP00000226413.5:p.Trp280Cys
ENST00000226413.4:c.840G>C ENSP00000226413.4:p.Trp280Cys
ENST00000420975.2:c.712G>C ENSP00000397561.2:p.Asp238His
NM_000406.2:c.840G>C NP_000397.1:p.Trp280Cys
NM_001012763.1:c.712G>C NP_001012781.1:p.Asp238His
NM_000406.3:c.840G>C MANE Select NP_000397.1:p.Trp280Cys
NM_001012763.2:c.712G>C NP_001012781.1:p.Asp238His
Search 100 bp 5'
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