Canonical Allele Identifier: CA2515938916

Gene: HRH4

Linked Data

• gnomAD v4: 18-24476783-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24476785del , CM000680.2:g.24476785del	GRCh38
NC_000018.9:g.22056749del , CM000680.1:g.22056749del	GRCh37
NC_000018.8:g.20310747del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.396del MANE Select	ENSP00000256906.4:p.Ile132MetfsTer4
ENST00000256906.4:c.396del	ENSP00000256906.4:p.Ile132MetfsTer4
ENST00000426880.2:c.194-62del	ENSP00000402526.2:n.194-62del
NM_001143828.1:c.194-62del	NP_001137300.1:n.194-62del
NM_001160166.1:c.*28del	NP_001153638.1:n.*28del
NM_021624.3:c.396del	NP_067637.2:p.Ile132MetfsTer4
XM_011526133.1:c.357+7834del	XP_011524435.1:n.357+7834del
NM_021624.4:c.396del MANE Select	NP_067637.2:p.Ile132MetfsTer4
NM_001143828.2:c.194-62del	NP_001137300.1:n.194-62del
NM_001160166.2:c.*28del	NP_001153638.1:n.*28del