Canonical Allele Identifier: CA988428165
Gene: HRH4 HGNC NCBI

Linked Data

dbSNP Id: rs1910165932
gnomAD v3: 18-24477220-TTCC-T
gnomAD v4: 18-24477220-TTCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24477222_24477224del , CM000680.2:g.24477222_24477224del GRCh38
NC_000018.9:g.22057186_22057188del , CM000680.1:g.22057186_22057188del GRCh37
NC_000018.8:g.20311184_20311186del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256906.5:c.833_835del MANE Select ENSP00000256906.4:p.Ser278del
ENST00000256906.4:c.833_835del ENSP00000256906.4:p.Ser278del
ENST00000426880.2:c.569_571del ENSP00000402526.2:p.Ser190del
NM_001143828.1:c.569_571del NP_001137300.1:p.Ser190del
NM_001160166.1:c.*465_*467del NP_001153638.1:n.*465_*467del
NM_021624.3:c.833_835del NP_067637.2:p.Ser278del
XM_011526133.1:c.357+8271_357+8273del XP_011524435.1:n.357+8271_357+8273del
NM_021624.4:c.833_835del MANE Select NP_067637.2:p.Ser278del
NM_001143828.2:c.569_571del NP_001137300.1:p.Ser190del
NM_001160166.2:c.*465_*467del NP_001153638.1:n.*465_*467del
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