Canonical Allele Identifier: CA7648850
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 579697
ClinVar RCV Id: RCV000703047 RCV000763981 RCV002325422
dbSNP Id: rs548130184
ExAC: 15:73615129 C / T
gnomAD v2: 15-73615129-C-T
gnomAD v3: 15-73322788-C-T
gnomAD v4: 15-73322788-C-T
MyVariant Identifiers: chr15:g.73615129C>T (hg19) chr15:g.73322788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322788C>T , CM000677.2:g.73322788C>T GRCh38
NC_000015.9:g.73615129C>T , CM000677.1:g.73615129C>T GRCh37
NC_000015.8:g.71402182C>T NCBI36
NG_009063.1:g.51477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3305G>A MANE Select ENSP00000261917.3:p.Arg1102His
ENST00000261917.3:c.3305G>A ENSP00000261917.3:p.Arg1102His
NM_005477.2:c.3305G>A NP_005468.1:p.Arg1102His
XM_011521148.1:c.2087G>A XP_011519450.1:p.Arg696His
XM_011521148.2:c.2087G>A XP_011519450.1:p.Arg696His
NM_005477.3:c.3305G>A MANE Select NP_005468.1:p.Arg1102His
Search 100 bp 5'
Search 100 bp 3'