Canonical Allele Identifier: CA8919831

Gene: HRH4

Linked Data

• dbSNP Id: rs745515394
• ExAC: 18:22056900 T / A
• gnomAD v2: 18-22056900-T-A
• gnomAD v4: 18-24476936-T-A
• MyVariant Identifiers: chr18:g.22056900T>A (hg19) ; chr18:g.24476936T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24476936T>A , CM000680.2:g.24476936T>A	GRCh38
NC_000018.9:g.22056900T>A , CM000680.1:g.22056900T>A	GRCh37
NC_000018.8:g.20310898T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.547T>A MANE Select	ENSP00000256906.4:p.Phe183Ile
ENST00000256906.4:c.547T>A	ENSP00000256906.4:p.Phe183Ile
ENST00000426880.2:c.283T>A	ENSP00000402526.2:p.Phe95Ile
NM_001143828.1:c.283T>A	NP_001137300.1:p.Phe95Ile
NM_001160166.1:c.*179T>A	NP_001153638.1:n.*179T>A
NM_021624.3:c.547T>A	NP_067637.2:p.Phe183Ile
XM_011526133.1:c.357+7985T>A	XP_011524435.1:n.357+7985T>A
NM_021624.4:c.547T>A MANE Select	NP_067637.2:p.Phe183Ile
NM_001143828.2:c.283T>A	NP_001137300.1:p.Phe95Ile
NM_001160166.2:c.*179T>A	NP_001153638.1:n.*179T>A