Canonical Allele Identifier: CA7648797
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 538090
ClinVar RCV Id: RCV000647247 RCV004025731
dbSNP Id: rs780977563
ExAC: 15:73614848 G / A
gnomAD v2: 15-73614848-G-A
gnomAD v3: 15-73322507-G-A
gnomAD v4: 15-73322507-G-A
COSMIC: COSM4623164
MyVariant Identifiers: chr15:g.73614848G>A (hg19) chr15:g.73322507G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322507G>A , CM000677.2:g.73322507G>A GRCh38
NC_000015.9:g.73614848G>A , CM000677.1:g.73614848G>A GRCh37
NC_000015.8:g.71401901G>A NCBI36
NG_009063.1:g.51758C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3586C>T MANE Select ENSP00000261917.3:p.Arg1196Cys
ENST00000261917.3:c.3586C>T ENSP00000261917.3:p.Arg1196Cys
NM_005477.2:c.3586C>T NP_005468.1:p.Arg1196Cys
XM_011521148.1:c.2368C>T XP_011519450.1:p.Arg790Cys
XM_011521148.2:c.2368C>T XP_011519450.1:p.Arg790Cys
NM_005477.3:c.3586C>T MANE Select NP_005468.1:p.Arg1196Cys
Search 100 bp 5'
Search 100 bp 3'