Canonical Allele Identifier: CA7648964

Gene: HCN4

Linked Data

• ClinVar Variation Id: 264440
• ClinVar RCV Id: RCV000245405 ; RCV000711890 ; RCV001088501
• dbSNP Id: rs200814534
• ExAC: 15:73615704 G / T
• gnomAD v2: 15-73615704-G-T
• gnomAD v3: 15-73323363-G-T
• gnomAD v4: 15-73323363-G-T
• MyVariant Identifiers: chr15:g.73615704G>T (hg19) ; chr15:g.73323363G>T (hg38)
• PubMed: PMID:27930701

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323363G>T , CM000677.2:g.73323363G>T	GRCh38
NC_000015.9:g.73615704G>T , CM000677.1:g.73615704G>T	GRCh37
NC_000015.8:g.71402757G>T	NCBI36
NG_009063.1:g.50902C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2730C>A MANE Select	ENSP00000261917.3:p.Phe910Leu
ENST00000261917.3:c.2730C>A	ENSP00000261917.3:p.Phe910Leu
NM_005477.2:c.2730C>A	NP_005468.1:p.Phe910Leu
XM_011521148.1:c.1512C>A	XP_011519450.1:p.Phe504Leu
XM_011521148.2:c.1512C>A	XP_011519450.1:p.Phe504Leu
NM_005477.3:c.2730C>A MANE Select	NP_005468.1:p.Phe910Leu