Canonical Allele Identifier: CA8919852

Gene: HRH4

Linked Data

• dbSNP Id: rs746608877
• ExAC: 18:22057022 C / A
• gnomAD v2: 18-22057022-C-A
• gnomAD v4: 18-24477058-C-A
• MyVariant Identifiers: chr18:g.22057022C>A (hg19) ; chr18:g.24477058C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477058C>A , CM000680.2:g.24477058C>A	GRCh38
NC_000018.9:g.22057022C>A , CM000680.1:g.22057022C>A	GRCh37
NC_000018.8:g.20311020C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.669C>A MANE Select	ENSP00000256906.4:p.Ile223=
ENST00000256906.4:c.669C>A	ENSP00000256906.4:p.Ile223=
ENST00000426880.2:c.405C>A	ENSP00000402526.2:p.Ile135=
NM_001143828.1:c.405C>A	NP_001137300.1:p.Ile135=
NM_001160166.1:c.*301C>A	NP_001153638.1:n.*301C>A
NM_021624.3:c.669C>A	NP_067637.2:p.Ile223=
XM_011526133.1:c.357+8107C>A	XP_011524435.1:n.357+8107C>A
NM_021624.4:c.669C>A MANE Select	NP_067637.2:p.Ile223=
NM_001143828.2:c.405C>A	NP_001137300.1:p.Ile135=
NM_001160166.2:c.*301C>A	NP_001153638.1:n.*301C>A