Canonical Allele Identifier: CA402083639

Gene: HRH4

Linked Data

• dbSNP Id: rs1910167242
• gnomAD v3: 18-24477248-C-T
• gnomAD v4: 18-24477248-C-T
• MyVariant Identifiers: chr18:g.22057212C>T (hg19) ; chr18:g.24477248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477248C>T , CM000680.2:g.24477248C>T	GRCh38
NC_000018.9:g.22057212C>T , CM000680.1:g.22057212C>T	GRCh37
NC_000018.8:g.20311210C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.859C>T MANE Select	ENSP00000256906.4:p.Leu287Phe
ENST00000256906.4:c.859C>T	ENSP00000256906.4:p.Leu287Phe
ENST00000426880.2:c.595C>T	ENSP00000402526.2:p.Leu199Phe
NM_001143828.1:c.595C>T	NP_001137300.1:p.Leu199Phe
NM_001160166.1:c.*491C>T	NP_001153638.1:n.*491C>T
NM_021624.3:c.859C>T	NP_067637.2:p.Leu287Phe
XM_011526133.1:c.357+8297C>T	XP_011524435.1:n.357+8297C>T
NM_021624.4:c.859C>T MANE Select	NP_067637.2:p.Leu287Phe
NM_001143828.2:c.595C>T	NP_001137300.1:p.Leu199Phe
NM_001160166.2:c.*491C>T	NP_001153638.1:n.*491C>T