Canonical Allele Identifier: CA8919818

Gene: HRH4

Linked Data

• dbSNP Id: rs774743992
• ExAC: 18:22056845 T / C
• gnomAD v2: 18-22056845-T-C
• gnomAD v4: 18-24476881-T-C
• MyVariant Identifiers: chr18:g.22056845T>C (hg19) ; chr18:g.24476881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24476881T>C , CM000680.2:g.24476881T>C	GRCh38
NC_000018.9:g.22056845T>C , CM000680.1:g.22056845T>C	GRCh37
NC_000018.8:g.20310843T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.492T>C MANE Select	ENSP00000256906.4:p.Cys164=
ENST00000256906.4:c.492T>C	ENSP00000256906.4:p.Cys164=
ENST00000426880.2:c.228T>C	ENSP00000402526.2:p.Cys76=
NM_001143828.1:c.228T>C	NP_001137300.1:p.Cys76=
NM_001160166.1:c.*124T>C	NP_001153638.1:n.*124T>C
NM_021624.3:c.492T>C	NP_067637.2:p.Cys164=
XM_011526133.1:c.357+7930T>C	XP_011524435.1:n.357+7930T>C
NM_021624.4:c.492T>C MANE Select	NP_067637.2:p.Cys164=
NM_001143828.2:c.228T>C	NP_001137300.1:p.Cys76=
NM_001160166.2:c.*124T>C	NP_001153638.1:n.*124T>C