Canonical Allele Identifier: CA402083456

Gene: HRH4

Linked Data

• MyVariant Identifiers: chr18:g.22057128C>A (hg19) ; chr18:g.24477164C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477164C>A , CM000680.2:g.24477164C>A	GRCh38
NC_000018.9:g.22057128C>A , CM000680.1:g.22057128C>A	GRCh37
NC_000018.8:g.20311126C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.775C>A MANE Select	ENSP00000256906.4:p.Leu259Ile
ENST00000256906.4:c.775C>A	ENSP00000256906.4:p.Leu259Ile
ENST00000426880.2:c.511C>A	ENSP00000402526.2:p.Leu171Ile
NM_001143828.1:c.511C>A	NP_001137300.1:p.Leu171Ile
NM_001160166.1:c.*407C>A	NP_001153638.1:n.*407C>A
NM_021624.3:c.775C>A	NP_067637.2:p.Leu259Ile
XM_011526133.1:c.357+8213C>A	XP_011524435.1:n.357+8213C>A
NM_021624.4:c.775C>A MANE Select	NP_067637.2:p.Leu259Ile
NM_001143828.2:c.511C>A	NP_001137300.1:p.Leu171Ile
NM_001160166.2:c.*407C>A	NP_001153638.1:n.*407C>A