Canonical Allele Identifier: CA8919829

Gene: HRH4

Linked Data

• dbSNP Id: rs377649493
• ExAC: 18:22056897 G / A
• gnomAD v2: 18-22056897-G-A
• gnomAD v3: 18-24476933-G-A
• gnomAD v4: 18-24476933-G-A
• MyVariant Identifiers: chr18:g.22056897G>A (hg19) ; chr18:g.24476933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24476933G>A , CM000680.2:g.24476933G>A	GRCh38
NC_000018.9:g.22056897G>A , CM000680.1:g.22056897G>A	GRCh37
NC_000018.8:g.20310895G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.544G>A MANE Select	ENSP00000256906.4:p.Glu182Lys
ENST00000256906.4:c.544G>A	ENSP00000256906.4:p.Glu182Lys
ENST00000426880.2:c.280G>A	ENSP00000402526.2:p.Glu94Lys
NM_001143828.1:c.280G>A	NP_001137300.1:p.Glu94Lys
NM_001160166.1:c.*176G>A	NP_001153638.1:n.*176G>A
NM_021624.3:c.544G>A	NP_067637.2:p.Glu182Lys
XM_011526133.1:c.357+7982G>A	XP_011524435.1:n.357+7982G>A
NM_021624.4:c.544G>A MANE Select	NP_067637.2:p.Glu182Lys
NM_001143828.2:c.280G>A	NP_001137300.1:p.Glu94Lys
NM_001160166.2:c.*176G>A	NP_001153638.1:n.*176G>A