Canonical Allele Identifier: CA2641326708

Gene: HRH4

Linked Data

• gnomAD v4: 18-24477146-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477149_24477150del , CM000680.2:g.24477149_24477150del	GRCh38
NC_000018.9:g.22057113_22057114del , CM000680.1:g.22057113_22057114del	GRCh37
NC_000018.8:g.20311111_20311112del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.760_761del MANE Select	ENSP00000256906.4:p.Arg254GlufsTer4
ENST00000256906.4:c.760_761del	ENSP00000256906.4:p.Arg254GlufsTer4
ENST00000426880.2:c.496_497del	ENSP00000402526.2:p.Arg166GlufsTer4
NM_001143828.1:c.496_497del	NP_001137300.1:p.Arg166GlufsTer4
NM_001160166.1:c.*392_*393del	NP_001153638.1:n.*392_*393del
NM_021624.3:c.760_761del	NP_067637.2:p.Arg254GlufsTer4
XM_011526133.1:c.357+8198_357+8199del	XP_011524435.1:n.357+8198_357+8199del
NM_021624.4:c.760_761del MANE Select	NP_067637.2:p.Arg254GlufsTer4
NM_001143828.2:c.496_497del	NP_001137300.1:p.Arg166GlufsTer4
NM_001160166.2:c.*392_*393del	NP_001153638.1:n.*392_*393del