Canonical Allele Identifier: CA98667570

Gene: GNRHR

Linked Data

• dbSNP Id: rs956181452
• gnomAD v4: 4-67740671-G-C
• MyVariant Identifiers: chr4:g.68606389G>C (hg19) ; chr4:g.67740671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67740671G>C , CM000666.2:g.67740671G>C	GRCh38
NC_000004.11:g.68606389G>C , CM000666.1:g.68606389G>C	GRCh37
NC_000004.10:g.68288984G>C	NCBI36
NG_009293.1:g.20416C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226413.5:c.796C>G MANE Select	ENSP00000226413.5:p.Leu266Val
ENST00000226413.4:c.796C>G	ENSP00000226413.4:p.Leu266Val
ENST00000420975.2:c.668C>G	ENSP00000397561.2:p.Ser223Cys
NM_000406.2:c.796C>G	NP_000397.1:p.Leu266Val
NM_001012763.1:c.668C>G	NP_001012781.1:p.Ser223Cys
NM_000406.3:c.796C>G MANE Select	NP_000397.1:p.Leu266Val
NM_001012763.2:c.668C>G	NP_001012781.1:p.Ser223Cys