Canonical Allele Identifier: CA8919873

Gene: HRH4

Linked Data

• dbSNP Id: rs773096238
• ExAC: 18:22057131 A / ATG
• gnomAD v2: 18-22057131-A-ATG
• gnomAD v4: 18-24477167-A-ATG
• MyVariant Identifiers: chr18:g.22057131_22057132insTG (hg19) ; chr18:g.24477167_24477168insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477169_24477170dup , CM000680.2:g.24477169_24477170dup	GRCh38
NC_000018.9:g.22057133_22057134dup , CM000680.1:g.22057133_22057134dup	GRCh37
NC_000018.8:g.20311131_20311132dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.780_781dup MANE Select	ENSP00000256906.4:p.Phe261CysfsTer8
ENST00000256906.4:c.780_781dup	ENSP00000256906.4:p.Phe261CysfsTer8
ENST00000426880.2:c.516_517dup	ENSP00000402526.2:p.Phe173CysfsTer8
NM_001143828.1:c.516_517dup	NP_001137300.1:p.Phe173CysfsTer8
NM_001160166.1:c.*412_*413dup	NP_001153638.1:n.*412_*413dup
NM_021624.3:c.780_781dup	NP_067637.2:p.Phe261CysfsTer8
XM_011526133.1:c.357+8218_357+8219dup	XP_011524435.1:n.357+8218_357+8219dup
NM_021624.4:c.780_781dup MANE Select	NP_067637.2:p.Phe261CysfsTer8
NM_001143828.2:c.516_517dup	NP_001137300.1:p.Phe173CysfsTer8
NM_001160166.2:c.*412_*413dup	NP_001153638.1:n.*412_*413dup