Canonical Allele Identifier: CA393086102
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2182326
ClinVar RCV Id: RCV002610792
dbSNP Id: rs1169782947

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322936G>A , CM000677.2:g.73322936G>A GRCh38
NC_000015.9:g.73615277G>A , CM000677.1:g.73615277G>A GRCh37
NC_000015.8:g.71402330G>A NCBI36
NG_009063.1:g.51329C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3157C>T MANE Select ENSP00000261917.3:p.Leu1053Phe
ENST00000261917.3:c.3157C>T ENSP00000261917.3:p.Leu1053Phe
NM_005477.2:c.3157C>T NP_005468.1:p.Leu1053Phe
XM_011521148.1:c.1939C>T XP_011519450.1:p.Leu647Phe
XM_011521148.2:c.1939C>T XP_011519450.1:p.Leu647Phe
NM_005477.3:c.3157C>T MANE Select NP_005468.1:p.Leu1053Phe