Canonical Allele Identifier: CA393086079
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2906624
ClinVar RCV Id: RCV003615354
dbSNP Id: rs1428883512

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322923G>A , CM000677.2:g.73322923G>A GRCh38
NC_000015.9:g.73615264G>A , CM000677.1:g.73615264G>A GRCh37
NC_000015.8:g.71402317G>A NCBI36
NG_009063.1:g.51342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3170C>T MANE Select ENSP00000261917.3:p.Ala1057Val
ENST00000261917.3:c.3170C>T ENSP00000261917.3:p.Ala1057Val
NM_005477.2:c.3170C>T NP_005468.1:p.Ala1057Val
XM_011521148.1:c.1952C>T XP_011519450.1:p.Ala651Val
XM_011521148.2:c.1952C>T XP_011519450.1:p.Ala651Val
NM_005477.3:c.3170C>T MANE Select NP_005468.1:p.Ala1057Val