Canonical Allele Identifier: CA8919875

Gene: HRH4

Linked Data

• dbSNP Id: rs575538185
• ExAC: 18:22057134 T / C
• gnomAD v2: 18-22057134-T-C
• gnomAD v3: 18-24477170-T-C
• gnomAD v4: 18-24477170-T-C
• MyVariant Identifiers: chr18:g.22057134T>C (hg19) ; chr18:g.24477170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477170T>C , CM000680.2:g.24477170T>C	GRCh38
NC_000018.9:g.22057134T>C , CM000680.1:g.22057134T>C	GRCh37
NC_000018.8:g.20311132T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.781T>C MANE Select	ENSP00000256906.4:p.Phe261Leu
ENST00000256906.4:c.781T>C	ENSP00000256906.4:p.Phe261Leu
ENST00000426880.2:c.517T>C	ENSP00000402526.2:p.Phe173Leu
NM_001143828.1:c.517T>C	NP_001137300.1:p.Phe173Leu
NM_001160166.1:c.*413T>C	NP_001153638.1:n.*413T>C
NM_021624.3:c.781T>C	NP_067637.2:p.Phe261Leu
XM_011526133.1:c.357+8219T>C	XP_011524435.1:n.357+8219T>C
NM_021624.4:c.781T>C MANE Select	NP_067637.2:p.Phe261Leu
NM_001143828.2:c.517T>C	NP_001137300.1:p.Phe173Leu
NM_001160166.2:c.*413T>C	NP_001153638.1:n.*413T>C