Canonical Allele Identifier: CA393089454
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 854920
ClinVar RCV Id: RCV001060067
dbSNP Id: rs1482088586

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323895A>G , CM000677.2:g.73323895A>G GRCh38
NC_000015.9:g.73616236A>G , CM000677.1:g.73616236A>G GRCh37
NC_000015.8:g.71403289A>G NCBI36
NG_009063.1:g.50370T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.2198T>C MANE Select ENSP00000261917.3:p.Val733Ala
ENST00000261917.3:c.2198T>C ENSP00000261917.3:p.Val733Ala
NM_005477.2:c.2198T>C NP_005468.1:p.Val733Ala
XM_011521148.1:c.980T>C XP_011519450.1:p.Val327Ala
XM_011521148.2:c.980T>C XP_011519450.1:p.Val327Ala
NM_005477.3:c.2198T>C MANE Select NP_005468.1:p.Val733Ala