Canonical Allele Identifier: CA503523266

Gene: HRH4

Linked Data

• dbSNP Id: rs1309681962
• gnomAD v2: 18-22056770-T-C
• gnomAD v4: 18-24476806-T-C
• MyVariant Identifiers: chr18:g.22056770T>C (hg19) ; chr18:g.24476806T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24476806T>C , CM000680.2:g.24476806T>C	GRCh38
NC_000018.9:g.22056770T>C , CM000680.1:g.22056770T>C	GRCh37
NC_000018.8:g.20310768T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000256906.5:c.417T>C MANE Select	ENSP00000256906.4:p.Val139=
ENST00000256906.4:c.417T>C	ENSP00000256906.4:p.Val139=
ENST00000426880.2:c.194-41T>C	ENSP00000402526.2:n.194-41T>C
NM_001143828.1:c.194-41T>C	NP_001137300.1:n.194-41T>C
NM_001160166.1:c.*49T>C	NP_001153638.1:n.*49T>C
NM_021624.3:c.417T>C	NP_067637.2:p.Val139=
XM_011526133.1:c.357+7855T>C	XP_011524435.1:n.357+7855T>C
NM_021624.4:c.417T>C MANE Select	NP_067637.2:p.Val139=
NM_001143828.2:c.194-41T>C	NP_001137300.1:n.194-41T>C
NM_001160166.2:c.*49T>C	NP_001153638.1:n.*49T>C