Canonical Allele Identifier: CA393086436
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1414408
ClinVar RCV Id: RCV001930454
dbSNP Id: rs1351588410

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323076A>G , CM000677.2:g.73323076A>G GRCh38
NC_000015.9:g.73615417A>G , CM000677.1:g.73615417A>G GRCh37
NC_000015.8:g.71402470A>G NCBI36
NG_009063.1:g.51189T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3017T>C MANE Select ENSP00000261917.3:p.Leu1006Pro
ENST00000261917.3:c.3017T>C ENSP00000261917.3:p.Leu1006Pro
NM_005477.2:c.3017T>C NP_005468.1:p.Leu1006Pro
XM_011521148.1:c.1799T>C XP_011519450.1:p.Leu600Pro
XM_011521148.2:c.1799T>C XP_011519450.1:p.Leu600Pro
NM_005477.3:c.3017T>C MANE Select NP_005468.1:p.Leu1006Pro