Canonical Allele Identifier: CA8919886

Gene: HRH4

Linked Data

• dbSNP Id: rs770870872
• ExAC: 18:22057196 AT / A
• gnomAD v2: 18-22057196-AT-A
• gnomAD v3: 18-24477232-AT-A
• gnomAD v4: 18-24477232-AT-A
• MyVariant Identifiers: chr18:g.22057197del (hg19) ; chr18:g.24477233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477233del , CM000680.2:g.24477233del	GRCh38
NC_000018.9:g.22057197del , CM000680.1:g.22057197del	GRCh37
NC_000018.8:g.20311195del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.844del MANE Select	ENSP00000256906.4:p.Ser282GlnfsTer4
ENST00000256906.4:c.844del	ENSP00000256906.4:p.Ser282GlnfsTer4
ENST00000426880.2:c.580del	ENSP00000402526.2:p.Ser194GlnfsTer4
NM_001143828.1:c.580del	NP_001137300.1:p.Ser194GlnfsTer4
NM_001160166.1:c.*476del	NP_001153638.1:n.*476del
NM_021624.3:c.844del	NP_067637.2:p.Ser282GlnfsTer4
XM_011526133.1:c.357+8282del	XP_011524435.1:n.357+8282del
NM_021624.4:c.844del MANE Select	NP_067637.2:p.Ser282GlnfsTer4
NM_001143828.2:c.580del	NP_001137300.1:p.Ser194GlnfsTer4
NM_001160166.2:c.*476del	NP_001153638.1:n.*476del