Canonical Allele Identifier: CA367149339

Gene: GHRHR

Linked Data

• gnomAD v4: 7-30968900-C-G
• MyVariant Identifiers: chr7:g.31008515C>G (hg19) ; chr7:g.30968900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30968900C>G , CM000669.2:g.30968900C>G	GRCh38
NC_000007.13:g.31008515C>G , CM000669.1:g.31008515C>G	GRCh37
NC_000007.12:g.30975040C>G	NCBI36
NG_021416.1:g.9880C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326139.7:c.124C>G MANE Select	ENSP00000320180.2:p.Leu42Val
ENST00000326139.6:c.124C>G	ENSP00000320180.2:p.Leu42Val
NM_000823.3:c.124C>G	NP_000814.2:p.Leu42Val
NM_000823.4:c.124C>G MANE Select	NP_000814.2:p.Leu42Val