Canonical Allele Identifier: CA7648873
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 698053
ClinVar RCV Id: RCV000865242 RCV001575483 RCV002442813
dbSNP Id: rs4493011
ExAC: 15:73615239 G / T
gnomAD v2: 15-73615239-G-T
gnomAD v3: 15-73322898-G-T
gnomAD v4: 15-73322898-G-T
MyVariant Identifiers: chr15:g.73615239G>T (hg19) chr15:g.73322898G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322898G>T , CM000677.2:g.73322898G>T GRCh38
NC_000015.9:g.73615239G>T , CM000677.1:g.73615239G>T GRCh37
NC_000015.8:g.71402292G>T NCBI36
NG_009063.1:g.51367C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3195C>A MANE Select ENSP00000261917.3:p.Val1065=
ENST00000261917.3:c.3195C>A ENSP00000261917.3:p.Val1065=
NM_005477.2:c.3195C>A NP_005468.1:p.Val1065=
XM_011521148.1:c.1977C>A XP_011519450.1:p.Val659=
XM_011521148.2:c.1977C>A XP_011519450.1:p.Val659=
NM_005477.3:c.3195C>A MANE Select NP_005468.1:p.Val1065=
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