Canonical Allele Identifier: CA393093397
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1284323
dbSNP Id: rs1429346819
COSMIC: COSM434254

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73329590G>A , CM000677.2:g.73329590G>A GRCh38
NC_000015.9:g.73621931G>A , CM000677.1:g.73621931G>A GRCh37
NC_000015.8:g.71408984G>A NCBI36
NG_009063.1:g.44675C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.1573C>T MANE Select ENSP00000261917.3:p.Arg525Cys
ENST00000261917.3:c.1573C>T ENSP00000261917.3:p.Arg525Cys
NM_005477.2:c.1573C>T NP_005468.1:p.Arg525Cys
XM_011521148.1:c.355C>T XP_011519450.1:p.Arg119Cys
XM_011521148.2:c.355C>T XP_011519450.1:p.Arg119Cys
NM_005477.3:c.1573C>T MANE Select NP_005468.1:p.Arg525Cys