Canonical Allele Identifier: CA2706496

Gene: GHSR

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)

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