Canonical Allele Identifier: CA402083756

Gene: HRH4

Linked Data

• MyVariant Identifiers: chr18:g.22057266C>A (hg19) ; chr18:g.24477302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477302C>A , CM000680.2:g.24477302C>A	GRCh38
NC_000018.9:g.22057266C>A , CM000680.1:g.22057266C>A	GRCh37
NC_000018.8:g.20311264C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.913C>A MANE Select	ENSP00000256906.4:p.Leu305Met
ENST00000256906.4:c.913C>A	ENSP00000256906.4:p.Leu305Met
ENST00000426880.2:c.649C>A	ENSP00000402526.2:p.Leu217Met
NM_001143828.1:c.649C>A	NP_001137300.1:p.Leu217Met
NM_001160166.1:c.*545C>A	NP_001153638.1:n.*545C>A
NM_021624.3:c.913C>A	NP_067637.2:p.Leu305Met
XM_011526133.1:c.357+8351C>A	XP_011524435.1:n.357+8351C>A
NM_021624.4:c.913C>A MANE Select	NP_067637.2:p.Leu305Met
NM_001143828.2:c.649C>A	NP_001137300.1:p.Leu217Met
NM_001160166.2:c.*545C>A	NP_001153638.1:n.*545C>A