Canonical Allele Identifier: CA402083640

Gene: HRH4

Linked Data

• MyVariant Identifiers: chr18:g.22057212C>G (hg19) ; chr18:g.24477248C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.859C>G MANE Select	ENSP00000256906.4:p.Leu287Val
ENST00000256906.4:c.859C>G	ENSP00000256906.4:p.Leu287Val
ENST00000426880.2:c.595C>G	ENSP00000402526.2:p.Leu199Val
NM_001143828.1:c.595C>G	NP_001137300.1:p.Leu199Val
NM_001160166.1:c.*491C>G	NP_001153638.1:n.*491C>G
NM_021624.3:c.859C>G	NP_067637.2:p.Leu287Val
XM_011526133.1:c.357+8297C>G	XP_011524435.1:n.357+8297C>G
NM_021624.4:c.859C>G MANE Select	NP_067637.2:p.Leu287Val
NM_001143828.2:c.595C>G	NP_001137300.1:p.Leu199Val
NM_001160166.2:c.*491C>G	NP_001153638.1:n.*491C>G