Canonical Allele Identifier: CA8919856

Gene: HRH4

Linked Data

• dbSNP Id: rs773536345
• ExAC: 18:22057030 A / C
• gnomAD v2: 18-22057030-A-C
• gnomAD v4: 18-24477066-A-C
• MyVariant Identifiers: chr18:g.22057030A>C (hg19) ; chr18:g.24477066A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477066A>C , CM000680.2:g.24477066A>C	GRCh38
NC_000018.9:g.22057030A>C , CM000680.1:g.22057030A>C	GRCh37
NC_000018.8:g.20311028A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.677A>C MANE Select	ENSP00000256906.4:p.His226Pro
ENST00000256906.4:c.677A>C	ENSP00000256906.4:p.His226Pro
ENST00000426880.2:c.413A>C	ENSP00000402526.2:p.His138Pro
NM_001143828.1:c.413A>C	NP_001137300.1:p.His138Pro
NM_001160166.1:c.*309A>C	NP_001153638.1:n.*309A>C
NM_021624.3:c.677A>C	NP_067637.2:p.His226Pro
XM_011526133.1:c.357+8115A>C	XP_011524435.1:n.357+8115A>C
NM_021624.4:c.677A>C MANE Select	NP_067637.2:p.His226Pro
NM_001143828.2:c.413A>C	NP_001137300.1:p.His138Pro
NM_001160166.2:c.*309A>C	NP_001153638.1:n.*309A>C