Canonical Allele Identifier: CA891844154
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 575303
ClinVar RCV Id: RCV000697483

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322493_73322494delinsCA , CM000677.2:g.73322493_73322494delinsCA GRCh38
NC_000015.9:g.73614834_73614835delinsCA , CM000677.1:g.73614834_73614835delinsCA GRCh37
NC_000015.8:g.71401887_71401888delinsCA NCBI36
NG_009063.1:g.51771_51772delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3599_3600delinsTG MANE Select ENSP00000261917.3:p.Pro1200Leu
ENST00000261917.3:c.3599_3600delinsTG ENSP00000261917.3:p.Pro1200Leu
NM_005477.2:c.3599_3600delinsTG NP_005468.1:p.Pro1200Leu
XM_011521148.1:c.2381_2382delinsTG XP_011519450.1:p.Pro794Leu
XM_011521148.2:c.2381_2382delinsTG XP_011519450.1:p.Pro794Leu
NM_005477.3:c.3599_3600delinsTG MANE Select NP_005468.1:p.Pro1200Leu