Canonical Allele Identifier: CA393093957
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2636206
ClinVar RCV Id: RCV004534376

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73329730C>T , CM000677.2:g.73329730C>T GRCh38
NC_000015.9:g.73622071C>T , CM000677.1:g.73622071C>T GRCh37
NC_000015.8:g.71409124C>T NCBI36
NG_009063.1:g.44535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.1433G>A MANE Select ENSP00000261917.3:p.Cys478Tyr
ENST00000261917.3:c.1433G>A ENSP00000261917.3:p.Cys478Tyr
NM_005477.2:c.1433G>A NP_005468.1:p.Cys478Tyr
XM_011521148.1:c.215G>A XP_011519450.1:p.Cys72Tyr
XM_011521148.2:c.215G>A XP_011519450.1:p.Cys72Tyr
NM_005477.3:c.1433G>A MANE Select NP_005468.1:p.Cys478Tyr