Canonical Allele Identifier: CA236695

Gene: HCN4

Linked Data

• ClinVar Variation Id: 191449
• ClinVar RCV Id: RCV000171641 ; RCV000619356 ; RCV001084908 ; RCV004535165
• dbSNP Id: rs200507617
• ExAC: 15:73614857 C / G
• gnomAD v2: 15-73614857-C-G
• gnomAD v3: 15-73322516-C-G
• gnomAD v4: 15-73322516-C-G
• COSMIC: COSM701285
• MyVariant Identifiers: chr15:g.73614857C>G (hg19) ; chr15:g.73322516C>G (hg38)
• PubMed: PMID:23861362 ; PMID:24607718 ; PMID:26230511

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322516C>G , CM000677.2:g.73322516C>G	GRCh38
NC_000015.9:g.73614857C>G , CM000677.1:g.73614857C>G	GRCh37
NC_000015.8:g.71401910C>G	NCBI36
NG_009063.1:g.51749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3577G>C MANE Select	ENSP00000261917.3:p.Glu1193Gln
ENST00000261917.3:c.3577G>C	ENSP00000261917.3:p.Glu1193Gln
NM_005477.2:c.3577G>C	NP_005468.1:p.Glu1193Gln
XM_011521148.1:c.2359G>C	XP_011519450.1:p.Glu787Gln
XM_011521148.2:c.2359G>C	XP_011519450.1:p.Glu787Gln
NM_005477.3:c.3577G>C MANE Select	NP_005468.1:p.Glu1193Gln