Canonical Allele Identifier: CA2706496
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 2850287
ClinVar RCV Id: RCV003688229
dbSNP Id: rs757070976
ExAC: 3:172165926 A / C
gnomAD v2: 3-172165926-A-C
gnomAD v3: 3-172448136-A-C
gnomAD v4: 3-172448136-A-C
MyVariant Identifiers: chr3:g.172165926A>C (hg19) chr3:g.172448136A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448136A>C , CM000665.2:g.172448136A>C GRCh38
NC_000003.11:g.172165926A>C , CM000665.1:g.172165926A>C GRCh37
NC_000003.10:g.173648620A>C NCBI36
NG_021159.1:g.5321T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.278T>G MANE Select ENSP00000241256.2:p.Phe93Cys
ENST00000241256.2:c.278T>G ENSP00000241256.2:p.Phe93Cys
ENST00000427970.1:c.278T>G ENSP00000395344.1:p.Phe93Cys
NM_004122.2:c.278T>G NP_004113.1:p.Phe93Cys
NM_198407.2:c.278T>G MANE Select NP_940799.1:p.Phe93Cys
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