Canonical Allele Identifier: CA11387164
Gene: GHSR HGNC NCBI
ClinVar RCV:
RCV001709826
ClinVar Variation:
1286049
dbSNP:
2948694
gnomAD v2:
3:172165163 A / G
gnomAD v3:
3:172447373 A / G
gnomAD v4:
chr3-172447373-A-G
Joint Max Group AF 0.38190647 (EAS)
Genomes Max Group AF 0.38724451 (EAS)
Exomes Max Group AF 0.32683014 (EAS)
MyVariant.info:
GRCh38 chr3:g.172447373A>G
GRCh37 chr3:g.172165163A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447373A>G , CM000665.2:g.172447373A>G GRCh38
NC_000003.11:g.172165163A>G , CM000665.1:g.172165163A>G GRCh37
NC_000003.10:g.173647857A>G NCBI36
NG_021159.1:g.6084T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.796+245T>C MANE Select ENSP00000241256.2:n.796+245T>C
ENST00000241256.2:c.796+245T>C ENSP00000241256.2:n.796+245T>C
NM_198407.2:c.796+245T>C MANE Select NP_940799.1:n.796+245T>C
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