Canonical Allele Identifier: CA357047654
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740600-C-T
COSMIC: COSM1753800
MyVariant Identifiers: chr4:g.68606318C>T (hg19) chr4:g.67740600C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740600C>T , CM000666.2:g.67740600C>T GRCh38
NC_000004.11:g.68606318C>T , CM000666.1:g.68606318C>T GRCh37
NC_000004.10:g.68288913C>T NCBI36
NG_009293.1:g.20487G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.867G>A MANE Select ENSP00000226413.5:p.Trp289Ter
ENST00000226413.4:c.867G>A ENSP00000226413.4:p.Trp289Ter
ENST00000420975.2:c.739G>A ENSP00000397561.2:p.Val247Ile
NM_000406.2:c.867G>A NP_000397.1:p.Trp289Ter
NM_001012763.1:c.739G>A NP_001012781.1:p.Val247Ile
NM_000406.3:c.867G>A MANE Select NP_000397.1:p.Trp289Ter
NM_001012763.2:c.739G>A NP_001012781.1:p.Val247Ile
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