Canonical Allele Identifier: CA156120703

Gene: GHRHR

Linked Data

• dbSNP Id: rs190966223
• gnomAD v3: 7-30979357-C-G
• gnomAD v4: 7-30979357-C-G
• MyVariant Identifiers: chr7:g.31018972C>G (hg19) ; chr7:g.30979357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979357C>G , CM000669.2:g.30979357C>G	GRCh38
NC_000007.13:g.31018972C>G , CM000669.1:g.31018972C>G	GRCh37
NC_000007.12:g.30985497C>G	NCBI36
NG_021416.1:g.20337C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326139.7:c.*113C>G MANE Select	ENSP00000320180.2:n.*113C>G
ENST00000326139.6:c.*113C>G	ENSP00000320180.2:n.*113C>G
ENST00000337750.9:c.*601C>G	ENSP00000338184.4:n.*601C>G
ENST00000396227.6:c.*601C>G	ENSP00000379529.2:n.*601C>G
ENST00000409316.5:c.*228C>G	ENSP00000386602.1:n.*228C>G
ENST00000409904.7:c.*113C>G	ENSP00000387113.3:n.*113C>G
ENST00000461424.5:n.680+2799C>G
ENST00000463164.1:n.369C>G
ENST00000611037.1:c.550+2799C>G	ENSP00000480159.1:n.550+2799C>G
NM_000823.3:c.*113C>G	NP_000814.2:n.*113C>G
XM_011515263.1:c.*113C>G	XP_011513565.1:n.*113C>G
NM_000823.4:c.*113C>G MANE Select	NP_000814.2:n.*113C>G