Canonical Allele Identifier: CA393089002
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2749465
ClinVar RCV Id: RCV003504733

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323712G>T , CM000677.2:g.73323712G>T GRCh38
NC_000015.9:g.73616053G>T , CM000677.1:g.73616053G>T GRCh37
NC_000015.8:g.71403106G>T NCBI36
NG_009063.1:g.50553C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.2381C>A MANE Select ENSP00000261917.3:p.Ala794Asp
ENST00000261917.3:c.2381C>A ENSP00000261917.3:p.Ala794Asp
NM_005477.2:c.2381C>A NP_005468.1:p.Ala794Asp
XM_011521148.1:c.1163C>A XP_011519450.1:p.Ala388Asp
XM_011521148.2:c.1163C>A XP_011519450.1:p.Ala388Asp
NM_005477.3:c.2381C>A MANE Select NP_005468.1:p.Ala794Asp