Canonical Allele Identifier: CA7648807
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1514095
dbSNP Id: rs749503920

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322567del , CM000677.2:g.73322567del GRCh38
NC_000015.9:g.73614908del , CM000677.1:g.73614908del GRCh37
NC_000015.8:g.71401961del NCBI36
NG_009063.1:g.51703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3531del MANE Select ENSP00000261917.3:p.Pro1179LeufsTer2
ENST00000261917.3:c.3531del ENSP00000261917.3:p.Pro1179LeufsTer2
NM_005477.2:c.3531del NP_005468.1:p.Pro1179LeufsTer2
XM_011521148.1:c.2313del XP_011519450.1:p.Pro773LeufsTer2
XM_011521148.2:c.2313del XP_011519450.1:p.Pro773LeufsTer2
NM_005477.3:c.3531del MANE Select NP_005468.1:p.Pro1179LeufsTer2