Canonical Allele Identifier: CA10618143
Gene: GNRHR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.67737817C>A
GRCh37 chr4:g.68603535C>A
gnomAD v2:
4:68603535 C / A
gnomAD v3:
4:67737817 C / A
gnomAD v4:
chr4-67737817-C-A
Joint Max Group AF 0.45262949 (MID)
Genomes Max Group AF 0.39349418 (NFE)
ClinVar RCV:
RCV000386570
ClinVar Variation:
349420
dbSNP:
1038426
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67737817C>A , CM000666.2:g.67737817C>A GRCh38
NC_000004.11:g.68603535C>A , CM000666.1:g.68603535C>A GRCh37
NC_000004.10:g.68286130C>A NCBI36
NG_009293.1:g.23270G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.*2663G>T MANE Select ENSP00000226413.5:n.*2663G>T
NM_000406.2:c.*2663G>T NP_000397.1:n.*2663G>T
NM_001012763.1:c.*2772G>T NP_001012781.1:n.*2772G>T
NM_000406.3:c.*2663G>T MANE Select NP_000397.1:n.*2663G>T
NM_001012763.2:c.*2772G>T NP_001012781.1:n.*2772G>T
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