Canonical Allele Identifier: CA8919897

Gene: HRH4

Linked Data

• dbSNP Id: rs757843291
• ExAC: 18:22057252 G / T
• gnomAD v2: 18-22057252-G-T
• gnomAD v4: 18-24477288-G-T
• MyVariant Identifiers: chr18:g.22057252G>T (hg19) ; chr18:g.24477288G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477288G>T , CM000680.2:g.24477288G>T	GRCh38
NC_000018.9:g.22057252G>T , CM000680.1:g.22057252G>T	GRCh37
NC_000018.8:g.20311250G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.899G>T MANE Select	ENSP00000256906.4:p.Arg300Ile
ENST00000256906.4:c.899G>T	ENSP00000256906.4:p.Arg300Ile
ENST00000426880.2:c.635G>T	ENSP00000402526.2:p.Arg212Ile
NM_001143828.1:c.635G>T	NP_001137300.1:p.Arg212Ile
NM_001160166.1:c.*531G>T	NP_001153638.1:n.*531G>T
NM_021624.3:c.899G>T	NP_067637.2:p.Arg300Ile
XM_011526133.1:c.357+8337G>T	XP_011524435.1:n.357+8337G>T
NM_021624.4:c.899G>T MANE Select	NP_067637.2:p.Arg300Ile
NM_001143828.2:c.635G>T	NP_001137300.1:p.Arg212Ile
NM_001160166.2:c.*531G>T	NP_001153638.1:n.*531G>T