Canonical Allele Identifier: CA8919890

Gene: HRH4

Linked Data

• dbSNP Id: rs753724437
• ExAC: 18:22057205 T / A
• gnomAD v2: 18-22057205-T-A
• gnomAD v4: 18-24477241-T-A
• MyVariant Identifiers: chr18:g.22057205T>A (hg19) ; chr18:g.24477241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477241T>A , CM000680.2:g.24477241T>A	GRCh38
NC_000018.9:g.22057205T>A , CM000680.1:g.22057205T>A	GRCh37
NC_000018.8:g.20311203T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.852T>A MANE Select	ENSP00000256906.4:p.Ser284=
ENST00000256906.4:c.852T>A	ENSP00000256906.4:p.Ser284=
ENST00000426880.2:c.588T>A	ENSP00000402526.2:p.Ser196=
NM_001143828.1:c.588T>A	NP_001137300.1:p.Ser196=
NM_001160166.1:c.*484T>A	NP_001153638.1:n.*484T>A
NM_021624.3:c.852T>A	NP_067637.2:p.Ser284=
XM_011526133.1:c.357+8290T>A	XP_011524435.1:n.357+8290T>A
NM_021624.4:c.852T>A MANE Select	NP_067637.2:p.Ser284=
NM_001143828.2:c.588T>A	NP_001137300.1:p.Ser196=
NM_001160166.2:c.*484T>A	NP_001153638.1:n.*484T>A