Canonical Allele Identifier: CA402082408

Gene: HRH4

Linked Data

• dbSNP Id: rs1209307755
• gnomAD v2: 18-22056712-T-C
• gnomAD v3: 18-24476748-T-C
• gnomAD v4: 18-24476748-T-C
• MyVariant Identifiers: chr18:g.22056712T>C (hg19) ; chr18:g.24476748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24476748T>C , CM000680.2:g.24476748T>C	GRCh38
NC_000018.9:g.22056712T>C , CM000680.1:g.22056712T>C	GRCh37
NC_000018.8:g.20310710T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.359T>C MANE Select	ENSP00000256906.4:p.Val120Ala
ENST00000256906.4:c.359T>C	ENSP00000256906.4:p.Val120Ala
ENST00000426880.2:c.194-99T>C	ENSP00000402526.2:n.194-99T>C
NM_001143828.1:c.194-99T>C	NP_001137300.1:n.194-99T>C
NM_001160166.1:c.195T>C	NP_001153638.1:p.Gly65=
NM_021624.3:c.359T>C	NP_067637.2:p.Val120Ala
XM_011526133.1:c.357+7797T>C	XP_011524435.1:n.357+7797T>C
NM_021624.4:c.359T>C MANE Select	NP_067637.2:p.Val120Ala
NM_001143828.2:c.194-99T>C	NP_001137300.1:n.194-99T>C
NM_001160166.2:c.195T>C	NP_001153638.1:p.Gly65=