Canonical Allele Identifier: CA15238458
Gene: GHSR HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.172445659G>A
GRCh37 chr3:g.172163449G>A
gnomAD v2:
3:172163449 G / A
gnomAD v3:
3:172445659 G / A
gnomAD v4:
chr3-172445659-G-A
Joint Max Group AF 0.42524061 (EAS)
Genomes Max Group AF 0.42524061 (EAS)
ClinVar RCV:
RCV001598093
ClinVar Variation:
1222463
dbSNP:
509035
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172445659G>A , CM000665.2:g.172445659G>A GRCh38
NC_000003.11:g.172163449G>A , CM000665.1:g.172163449G>A GRCh37
NC_000003.10:g.173646143G>A NCBI36
NG_021159.1:g.7798C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.797-194C>T MANE Select ENSP00000241256.2:n.797-194C>T
ENST00000241256.2:c.797-194C>T ENSP00000241256.2:n.797-194C>T
NM_198407.2:c.797-194C>T MANE Select NP_940799.1:n.797-194C>T
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