Canonical Allele Identifier: CA402083698

Gene: HRH4

Linked Data

• gnomAD v4: 18-24477273-T-G
• MyVariant Identifiers: chr18:g.22057237T>G (hg19) ; chr18:g.24477273T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477273T>G , CM000680.2:g.24477273T>G	GRCh38
NC_000018.9:g.22057237T>G , CM000680.1:g.22057237T>G	GRCh37
NC_000018.8:g.20311235T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.884T>G MANE Select	ENSP00000256906.4:p.Leu295Arg
ENST00000256906.4:c.884T>G	ENSP00000256906.4:p.Leu295Arg
ENST00000426880.2:c.620T>G	ENSP00000402526.2:p.Leu207Arg
NM_001143828.1:c.620T>G	NP_001137300.1:p.Leu207Arg
NM_001160166.1:c.*516T>G	NP_001153638.1:n.*516T>G
NM_021624.3:c.884T>G	NP_067637.2:p.Leu295Arg
XM_011526133.1:c.357+8322T>G	XP_011524435.1:n.357+8322T>G
NM_021624.4:c.884T>G MANE Select	NP_067637.2:p.Leu295Arg
NM_001143828.2:c.620T>G	NP_001137300.1:p.Leu207Arg
NM_001160166.2:c.*516T>G	NP_001153638.1:n.*516T>G