Canonical Allele Identifier: CA8919845

Gene: HRH4

Linked Data

• dbSNP Id: rs115230320
• ExAC: 18:22056963 C / T
• gnomAD v2: 18-22056963-C-T
• gnomAD v3: 18-24476999-C-T
• gnomAD v4: 18-24476999-C-T
• MyVariant Identifiers: chr18:g.22056963C>T (hg19) ; chr18:g.24476999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24476999C>T , CM000680.2:g.24476999C>T	GRCh38
NC_000018.9:g.22056963C>T , CM000680.1:g.22056963C>T	GRCh37
NC_000018.8:g.20310961C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.610C>T MANE Select	ENSP00000256906.4:p.Arg204Cys
ENST00000256906.4:c.610C>T	ENSP00000256906.4:p.Arg204Cys
ENST00000426880.2:c.346C>T	ENSP00000402526.2:p.Arg116Cys
NM_001143828.1:c.346C>T	NP_001137300.1:p.Arg116Cys
NM_001160166.1:c.*242C>T	NP_001153638.1:n.*242C>T
NM_021624.3:c.610C>T	NP_067637.2:p.Arg204Cys
XM_011526133.1:c.357+8048C>T	XP_011524435.1:n.357+8048C>T
NM_021624.4:c.610C>T MANE Select	NP_067637.2:p.Arg204Cys
NM_001143828.2:c.346C>T	NP_001137300.1:p.Arg116Cys
NM_001160166.2:c.*242C>T	NP_001153638.1:n.*242C>T