Canonical Allele Identifier: CA297156160

Gene: HRH4

Linked Data

• dbSNP Id: rs760540221
• gnomAD v2: 18-22057198-C-CA
• gnomAD v3: 18-24477234-C-CA
• gnomAD v4: 18-24477234-C-CA
• COSMIC: COSM4580348
• MyVariant Identifiers: chr18:g.22057198_22057199insA (hg19) ; chr18:g.24477234_24477235insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477235dup , CM000680.2:g.24477235dup	GRCh38
NC_000018.9:g.22057199dup , CM000680.1:g.22057199dup	GRCh37
NC_000018.8:g.20311197dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.846dup MANE Select	ENSP00000256906.4:p.Asp283ArgfsTer12
ENST00000256906.4:c.846dup	ENSP00000256906.4:p.Asp283ArgfsTer12
ENST00000426880.2:c.582dup	ENSP00000402526.2:p.Asp195ArgfsTer12
NM_001143828.1:c.582dup	NP_001137300.1:p.Asp195ArgfsTer12
NM_001160166.1:c.*478dup	NP_001153638.1:n.*478dup
NM_021624.3:c.846dup	NP_067637.2:p.Asp283ArgfsTer12
XM_011526133.1:c.357+8284dup	XP_011524435.1:n.357+8284dup
NM_021624.4:c.846dup MANE Select	NP_067637.2:p.Asp283ArgfsTer12
NM_001143828.2:c.582dup	NP_001137300.1:p.Asp195ArgfsTer12
NM_001160166.2:c.*478dup	NP_001153638.1:n.*478dup