Canonical Allele Identifier: CA8919821
Gene: HRH4 HGNC NCBI

Linked Data

dbSNP Id: rs747889390
ExAC: 18:22056854 A / AT
gnomAD v2: 18-22056854-A-AT
gnomAD v3: 18-24476890-A-AT
gnomAD v4: 18-24476890-A-AT
COSMIC: COSM6202332
MyVariant Identifiers: chr18:g.22056854_22056855insT (hg19) chr18:g.24476890_24476891insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24476897dup , CM000680.2:g.24476897dup GRCh38
NC_000018.9:g.22056861dup , CM000680.1:g.22056861dup GRCh37
NC_000018.8:g.20310859dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256906.5:c.508dup MANE Select ENSP00000256906.4:p.Ser170PhefsTer?
ENST00000256906.4:c.508dup ENSP00000256906.4:p.Ser170PhefsTer?
ENST00000426880.2:c.244dup ENSP00000402526.2:p.Ser82PhefsTer?
NM_001143828.1:c.244dup NP_001137300.1:p.Ser82PhefsTer?
NM_001160166.1:c.*140dup NP_001153638.1:n.*140dup
NM_021624.3:c.508dup NP_067637.2:p.Ser170PhefsTer?
XM_011526133.1:c.357+7946dup XP_011524435.1:n.357+7946dup
NM_021624.4:c.508dup MANE Select NP_067637.2:p.Ser170PhefsTer?
NM_001143828.2:c.244dup NP_001137300.1:p.Ser82PhefsTer?
NM_001160166.2:c.*140dup NP_001153638.1:n.*140dup
Search 100 bp 5'
Search 100 bp 3'