Canonical Allele Identifier: CA503523857

Gene: HRH4

Linked Data

• MyVariant Identifiers: chr18:g.22057232T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477268T>G , CM000680.2:g.24477268T>G	GRCh38
NC_000018.9:g.22057232T>G , CM000680.1:g.22057232T>G	GRCh37
NC_000018.8:g.20311230T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.879T>G MANE Select	ENSP00000256906.4:p.Val293=
ENST00000256906.4:c.879T>G	ENSP00000256906.4:p.Val293=
ENST00000426880.2:c.615T>G	ENSP00000402526.2:p.Val205=
NM_001143828.1:c.615T>G	NP_001137300.1:p.Val205=
NM_001160166.1:c.*511T>G	NP_001153638.1:n.*511T>G
NM_021624.3:c.879T>G	NP_067637.2:p.Val293=
XM_011526133.1:c.357+8317T>G	XP_011524435.1:n.357+8317T>G
NM_021624.4:c.879T>G MANE Select	NP_067637.2:p.Val293=
NM_001143828.2:c.615T>G	NP_001137300.1:p.Val205=
NM_001160166.2:c.*511T>G	NP_001153638.1:n.*511T>G