Canonical Allele Identifier: CA393088437
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010839
ClinVar RCV Id: RCV001308543
dbSNP Id: rs2042876797

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323418G>A , CM000677.2:g.73323418G>A GRCh38
NC_000015.9:g.73615759G>A , CM000677.1:g.73615759G>A GRCh37
NC_000015.8:g.71402812G>A NCBI36
NG_009063.1:g.50847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.2675C>T MANE Select ENSP00000261917.3:p.Ala892Val
ENST00000261917.3:c.2675C>T ENSP00000261917.3:p.Ala892Val
NM_005477.2:c.2675C>T NP_005468.1:p.Ala892Val
XM_011521148.1:c.1457C>T XP_011519450.1:p.Ala486Val
XM_011521148.2:c.1457C>T XP_011519450.1:p.Ala486Val
NM_005477.3:c.2675C>T MANE Select NP_005468.1:p.Ala892Val