Canonical Allele Identifier: CA235701
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 190772
ClinVar RCV Id: RCV000170931 RCV000185511 RCV000204998 RCV000617204 RCV001084342 RCV001120898
dbSNP Id: rs62641689
ExAC: 15:73616159 C / T
gnomAD v2: 15-73616159-C-T
gnomAD v3: 15-73323818-C-T
gnomAD v4: 15-73323818-C-T
MyVariant Identifiers: chr15:g.73616159C>T (hg19) chr15:g.73323818C>T (hg38)
PubMed: PMID:21615589 PMID:23623143 PMID:23861362 PMID:24569893 PMID:25145517 PMID:25467552 PMID:25642760 PMID:26179811
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323818C>T , CM000677.2:g.73323818C>T GRCh38
NC_000015.9:g.73616159C>T , CM000677.1:g.73616159C>T GRCh37
NC_000015.8:g.71403212C>T NCBI36
NG_009063.1:g.50447G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.2275G>A MANE Select ENSP00000261917.3:p.Val759Ile
ENST00000261917.3:c.2275G>A ENSP00000261917.3:p.Val759Ile
NM_005477.2:c.2275G>A NP_005468.1:p.Val759Ile
XM_011521148.1:c.1057G>A XP_011519450.1:p.Val353Ile
XM_011521148.2:c.1057G>A XP_011519450.1:p.Val353Ile
NM_005477.3:c.2275G>A MANE Select NP_005468.1:p.Val759Ile
Search 100 bp 5'
Search 100 bp 3'