Canonical Allele Identifier: CA393098682
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2091597
ClinVar RCV Id: RCV003015677

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73368051C>T , CM000677.2:g.73368051C>T GRCh38
NC_000015.9:g.73660392C>T , CM000677.1:g.73660392C>T GRCh37
NC_000015.8:g.71447445C>T NCBI36
NG_009063.1:g.6214G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.220G>A MANE Select ENSP00000261917.3:p.Ala74Thr
ENST00000261917.3:c.220G>A ENSP00000261917.3:p.Ala74Thr
NM_005477.2:c.220G>A NP_005468.1:p.Ala74Thr
NM_005477.3:c.220G>A MANE Select NP_005468.1:p.Ala74Thr