Canonical Allele Identifier: CA236697

Gene: HCN4

Linked Data

• ClinVar Variation Id: 191450
• ClinVar RCV Id: RCV000171642 ; RCV000799609 ; RCV002460051
• dbSNP Id: rs145862018
• ExAC: 15:73614973 C / T
• gnomAD v2: 15-73614973-C-T
• gnomAD v3: 15-73322632-C-T
• gnomAD v4: 15-73322632-C-T
• MyVariant Identifiers: chr15:g.73614973C>T (hg19) ; chr15:g.73322632C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322632C>T , CM000677.2:g.73322632C>T	GRCh38
NC_000015.9:g.73614973C>T , CM000677.1:g.73614973C>T	GRCh37
NC_000015.8:g.71402026C>T	NCBI36
NG_009063.1:g.51633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3461G>A MANE Select	ENSP00000261917.3:p.Arg1154Gln
ENST00000261917.3:c.3461G>A	ENSP00000261917.3:p.Arg1154Gln
NM_005477.2:c.3461G>A	NP_005468.1:p.Arg1154Gln
XM_011521148.1:c.2243G>A	XP_011519450.1:p.Arg748Gln
XM_011521148.2:c.2243G>A	XP_011519450.1:p.Arg748Gln
NM_005477.3:c.3461G>A MANE Select	NP_005468.1:p.Arg1154Gln