Canonical Allele Identifier: CA2580089967
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1934156
ClinVar RCV Id: RCV002631725

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322557_73322570del , CM000677.2:g.73322557_73322570del GRCh38
NC_000015.9:g.73614898_73614911del , CM000677.1:g.73614898_73614911del GRCh37
NC_000015.8:g.71401951_71401964del NCBI36
NG_009063.1:g.51699_51712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3527_3540del MANE Select ENSP00000261917.3:p.Gly1176AspfsTer13
ENST00000261917.3:c.3527_3540del ENSP00000261917.3:p.Gly1176AspfsTer13
NM_005477.2:c.3527_3540del NP_005468.1:p.Gly1176AspfsTer13
XM_011521148.1:c.2309_2322del XP_011519450.1:p.Gly770AspfsTer13
XM_011521148.2:c.2309_2322del XP_011519450.1:p.Gly770AspfsTer13
NM_005477.3:c.3527_3540del MANE Select NP_005468.1:p.Gly1176AspfsTer13