Canonical Allele Identifier: CA402083708

Gene: HRH4

Linked Data

• dbSNP Id: rs1439952650
• gnomAD v2: 18-22057243-G-T
• gnomAD v4: 18-24477279-G-T
• MyVariant Identifiers: chr18:g.22057243G>T (hg19) ; chr18:g.24477279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477279G>T , CM000680.2:g.24477279G>T	GRCh38
NC_000018.9:g.22057243G>T , CM000680.1:g.22057243G>T	GRCh37
NC_000018.8:g.20311241G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.890G>T MANE Select	ENSP00000256906.4:p.Arg297Ile
ENST00000256906.4:c.890G>T	ENSP00000256906.4:p.Arg297Ile
ENST00000426880.2:c.626G>T	ENSP00000402526.2:p.Arg209Ile
NM_001143828.1:c.626G>T	NP_001137300.1:p.Arg209Ile
NM_001160166.1:c.*522G>T	NP_001153638.1:n.*522G>T
NM_021624.3:c.890G>T	NP_067637.2:p.Arg297Ile
XM_011526133.1:c.357+8328G>T	XP_011524435.1:n.357+8328G>T
NM_021624.4:c.890G>T MANE Select	NP_067637.2:p.Arg297Ile
NM_001143828.2:c.626G>T	NP_001137300.1:p.Arg209Ile
NM_001160166.2:c.*522G>T	NP_001153638.1:n.*522G>T