Canonical Allele Identifier: CA3254474

Gene: GHR

Linked Data

• ClinVar Variation Id: 281656
• ClinVar RCV Id: RCV000292438 ; RCV000660599 ; RCV000724936 ; RCV001156023
• dbSNP Id: rs6177
• ExAC: 5:42711376 G / A
• gnomAD v2: 5-42711376-G-A
• gnomAD v3: 5-42711274-G-A
• gnomAD v4: 5-42711274-G-A
• MyVariant Identifiers: chr5:g.42711376G>A (hg19) ; chr5:g.42711274G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42711274G>A , CM000667.2:g.42711274G>A	GRCh38
NC_000005.9:g.42711376G>A , CM000667.1:g.42711376G>A	GRCh37
NC_000005.8:g.42747133G>A	NCBI36
NG_011688.1:g.292351G>A
NG_011688.2:g.292351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.686G>A MANE Select	ENSP00000230882.4:p.Arg229His
ENST00000230882.8:c.686G>A	ENSP00000230882.4:p.Arg229His
ENST00000357703.6:c.620G>A	ENSP00000350335.3:p.Arg207His
ENST00000511135.5:c.*298G>A	ENSP00000422333.1:n.*298G>A
ENST00000537449.5:c.686G>A	ENSP00000442206.2:p.Arg229His
ENST00000612382.4:c.686G>A	ENSP00000478332.1:p.Arg229His
ENST00000612626.4:c.686G>A	ENSP00000479846.1:p.Arg229His
ENST00000615111.4:c.686G>A	ENSP00000478291.1:p.Arg229His
ENST00000618088.4:c.686G>A	ENSP00000482373.1:p.Arg229His
ENST00000620156.4:c.707G>A	ENSP00000483403.1:p.Arg236His
ENST00000622294.2:c.686G>A	ENSP00000483926.1:p.Arg229His
NM_000163.4:c.686G>A	NP_000154.1:p.Arg229His
NM_001242399.2:c.707G>A	NP_001229328.1:p.Arg236His
NM_001242400.2:c.686G>A	NP_001229329.1:p.Arg229His
NM_001242401.3:c.686G>A	NP_001229330.1:p.Arg229His
NM_001242402.2:c.686G>A	NP_001229331.1:p.Arg229His
NM_001242403.2:c.686G>A	NP_001229332.1:p.Arg229His
NM_001242404.2:c.686G>A	NP_001229333.1:p.Arg229His
NM_001242405.2:c.686G>A	NP_001229334.1:p.Arg229His
NM_001242406.2:c.686G>A	NP_001229335.1:p.Arg229His
NM_001242460.1:c.620G>A	NP_001229389.1:p.Arg207His
NM_001242462.1:c.686G>A	NP_001229391.1:p.Arg229His
XM_011514031.1:c.641G>A	XP_011512333.1:p.Arg214His
NM_000163.5:c.686G>A MANE Select	NP_000154.1:p.Arg229His
NM_001242401.4:c.686G>A	NP_001229330.1:p.Arg229His
NM_001242403.3:c.686G>A	NP_001229332.1:p.Arg229His