Canonical Allele Identifier: CA10620475

Gene: GHR

Linked Data

• ClinVar Variation Id: 353676
• ClinVar RCV Id: RCV000364344 ; RCV001643072
• dbSNP Id: rs2940928
• gnomAD v2: 5-42423905-A-G
• gnomAD v3: 5-42423803-A-G
• gnomAD v4: 5-42423803-A-G
• MyVariant Identifiers: chr5:g.42423905A>G (hg19) ; chr5:g.42423803A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42423803A>G , CM000667.2:g.42423803A>G	GRCh38
NC_000005.9:g.42423905A>G , CM000667.1:g.42423905A>G	GRCh37
NC_000005.8:g.42459662A>G	NCBI36
NG_011688.1:g.4880A>G
NG_011688.2:g.4880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.-164A>G MANE Select	ENSP00000230882.4:n.-164A>G
ENST00000230882.8:c.-164A>G	ENSP00000230882.4:n.-164A>G
NM_000163.4:c.-164A>G	NP_000154.1:n.-164A>G
NM_000163.5:c.-164A>G MANE Select	NP_000154.1:n.-164A>G