Canonical Allele Identifier: CA272672089
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 470648
ClinVar RCV Id: RCV000538055 RCV002395428
dbSNP Id: rs998387579
gnomAD v2: 15-73622056-C-T
gnomAD v3: 15-73329715-C-T
gnomAD v4: 15-73329715-C-T
COSMIC: COSM174955
MyVariant Identifiers: chr15:g.73622056C>T (hg19) chr15:g.73329715C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73329715C>T , CM000677.2:g.73329715C>T GRCh38
NC_000015.9:g.73622056C>T , CM000677.1:g.73622056C>T GRCh37
NC_000015.8:g.71409109C>T NCBI36
NG_009063.1:g.44550G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.1448G>A MANE Select ENSP00000261917.3:p.Arg483Gln
ENST00000261917.3:c.1448G>A ENSP00000261917.3:p.Arg483Gln
NM_005477.2:c.1448G>A NP_005468.1:p.Arg483Gln
XM_011521148.1:c.230G>A XP_011519450.1:p.Arg77Gln
XM_011521148.2:c.230G>A XP_011519450.1:p.Arg77Gln
NM_005477.3:c.1448G>A MANE Select NP_005468.1:p.Arg483Gln
Search 100 bp 5'
Search 100 bp 3'