Canonical Allele Identifier: CA2706476
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1209321
ClinVar RCV Id: RCV001577947 RCV003130539 RCV002568503
dbSNP Id: rs199698243
ExAC: 3:172165782 C / G
gnomAD v2: 3-172165782-C-G
gnomAD v3: 3-172447992-C-G
gnomAD v4: 3-172447992-C-G
MyVariant Identifiers: chr3:g.172165782C>G (hg19) chr3:g.172165782_172165863delinsGGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA (hg19) chr3:g.172447992C>G (hg38) chr3:g.172447992_172448073delinsGGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447992C>G , CM000665.2:g.172447992C>G GRCh38
NC_000003.11:g.172165782C>G , CM000665.1:g.172165782C>G GRCh37
NC_000003.10:g.173648476C>G NCBI36
NG_021159.1:g.5465G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.422G>C MANE Select ENSP00000241256.2:p.Arg141Pro
ENST00000241256.2:c.422G>C ENSP00000241256.2:p.Arg141Pro
ENST00000427970.1:c.422G>C ENSP00000395344.1:p.Arg141Pro
NM_004122.2:c.422G>C NP_004113.1:p.Arg141Pro
NM_198407.2:c.422G>C MANE Select NP_940799.1:p.Arg141Pro
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