Canonical Allele Identifier: CA355512091
Gene: GHSR HGNC NCBI
ClinVar RCV:
RCV002827509
ClinVar Variation:
2279034
gnomAD v4:
chr3-172445322-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr3:g.172445322G>A
GRCh37 chr3:g.172163112G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172445322G>A , CM000665.2:g.172445322G>A GRCh38
NC_000003.11:g.172163112G>A , CM000665.1:g.172163112G>A GRCh37
NC_000003.10:g.173645806G>A NCBI36
NG_021159.1:g.8135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.940C>T MANE Select ENSP00000241256.2:p.Leu314Phe
ENST00000241256.2:c.940C>T ENSP00000241256.2:p.Leu314Phe
NM_198407.2:c.940C>T MANE Select NP_940799.1:p.Leu314Phe
Search 100 bp 5'
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