Canonical Allele Identifier: CA393089011
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1790373
ClinVar RCV Id: RCV002450190

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323716T>C , CM000677.2:g.73323716T>C GRCh38
NC_000015.9:g.73616057T>C , CM000677.1:g.73616057T>C GRCh37
NC_000015.8:g.71403110T>C NCBI36
NG_009063.1:g.50549A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.2377A>G MANE Select ENSP00000261917.3:p.Ile793Val
ENST00000261917.3:c.2377A>G ENSP00000261917.3:p.Ile793Val
NM_005477.2:c.2377A>G NP_005468.1:p.Ile793Val
XM_011521148.1:c.1159A>G XP_011519450.1:p.Ile387Val
XM_011521148.2:c.1159A>G XP_011519450.1:p.Ile387Val
NM_005477.3:c.2377A>G MANE Select NP_005468.1:p.Ile793Val