Canonical Allele Identifier: CA199790

Gene: HCN4

Linked Data

• ClinVar Variation Id: 191377
• ClinVar RCV Id: RCV000171563 ; RCV000647239 ; RCV001530062 ; RCV002453588 ; RCV002478543
• dbSNP Id: rs786205259
• ExAC: 15:73614928 CCAAA / C
• gnomAD v2: 15-73614928-CCAAA-C
• gnomAD v3: 15-73322587-CCAAA-C
• gnomAD v4: 15-73322587-CCAAA-C
• MyVariant Identifiers: chr15:g.73614933_73614936del (hg19) ; chr15:g.73614929_73614932del (hg19) ; chr15:g.73322592_73322595del (hg38) ; chr15:g.73322589_73322592del (hg38) ; chr15:g.73322588_73322591del (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322592_73322595del , CM000677.2:g.73322592_73322595del	GRCh38
NC_000015.9:g.73614933_73614936del , CM000677.1:g.73614933_73614936del	GRCh37
NC_000015.8:g.71401986_71401989del	NCBI36
NG_009063.1:g.51674_51677del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.3502_3505del MANE Select	ENSP00000261917.3:p.Phe1168GlyfsTer12
ENST00000261917.3:c.3502_3505del	ENSP00000261917.3:p.Phe1168GlyfsTer12
NM_005477.2:c.3502_3505del	NP_005468.1:p.Phe1168GlyfsTer12
XM_011521148.1:c.2284_2287del	XP_011519450.1:p.Phe762GlyfsTer12
XM_011521148.2:c.2284_2287del	XP_011519450.1:p.Phe762GlyfsTer12
NM_005477.3:c.3502_3505del MANE Select	NP_005468.1:p.Phe1168GlyfsTer12