Canonical Allele Identifier: CA174022

Gene: GHRHR

Linked Data

• ClinVar Variation Id: 161436
• ClinVar RCV Id: RCV000148941
• dbSNP Id: rs200848306
• ExAC: 7:31009494 G / A
• gnomAD v2: 7-31009494-G-A
• gnomAD v3: 7-30969879-G-A
• gnomAD v4: 7-30969879-G-A
• MyVariant Identifiers: chr7:g.31009494G>A (hg19) ; chr7:g.30969879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30969879G>A , CM000669.2:g.30969879G>A	GRCh38
NC_000007.13:g.31009494G>A , CM000669.1:g.31009494G>A	GRCh37
NC_000007.12:g.30976019G>A	NCBI36
NG_021416.1:g.10859G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326139.7:c.281G>A MANE Select	ENSP00000320180.2:p.Arg94Gln
ENST00000326139.6:c.281G>A	ENSP00000320180.2:p.Arg94Gln
ENST00000337750.9:c.89G>A	ENSP00000338184.4:p.Arg30Gln
ENST00000396227.6:c.89G>A	ENSP00000379529.2:p.Arg30Gln
ENST00000409316.5:c.-267G>A	ENSP00000386602.1:n.-267G>A
ENST00000409904.7:c.89G>A	ENSP00000387113.3:p.Arg30Gln
NM_000823.3:c.281G>A	NP_000814.2:p.Arg94Gln
XM_011515263.1:c.89G>A	XP_011513565.1:p.Arg30Gln
NM_000823.4:c.281G>A MANE Select	NP_000814.2:p.Arg94Gln