Canonical Allele Identifier: CA4208371

Gene: GHRHR

Linked Data

• ClinVar Variation Id: 360027
• ClinVar RCV Id: RCV000377318 ; RCV001795994 ; RCV003479107
• dbSNP Id: rs139599160
• ExAC: 7:31003712 T / G
• gnomAD v2: 7-31003712-T-G
• gnomAD v3: 7-30964097-T-G
• gnomAD v4: 7-30964097-T-G
• MyVariant Identifiers: chr7:g.31003712T>G (hg19) ; chr7:g.30964097T>G (hg38)
• PubMed: PMID:19622623

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30964097T>G , CM000669.2:g.30964097T>G	GRCh38
NC_000007.13:g.31003712T>G , CM000669.1:g.31003712T>G	GRCh37
NC_000007.12:g.30970237T>G	NCBI36
NG_021416.1:g.5077T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326139.7:c.29T>G MANE Select	ENSP00000320180.2:p.Val10Gly
ENST00000326139.6:c.29T>G	ENSP00000320180.2:p.Val10Gly
ENST00000466427.1:n.285-4737T>G
NM_000823.3:c.29T>G	NP_000814.2:p.Val10Gly
NM_000823.4:c.29T>G MANE Select	NP_000814.2:p.Val10Gly