Canonical Allele Identifier: CA7649278

Gene: HCN4

Linked Data

• ClinVar Variation Id: 2089702
• ClinVar RCV Id: RCV003020542
• dbSNP Id: rs763669122
• ExAC: 15:73621930 C / T
• gnomAD v2: 15-73621930-C-T
• gnomAD v4: 15-73329589-C-T
• COSMIC: COSM275432
• MyVariant Identifiers: chr15:g.73621930C>T (hg19) ; chr15:g.73329589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73329589C>T , CM000677.2:g.73329589C>T	GRCh38
NC_000015.9:g.73621930C>T , CM000677.1:g.73621930C>T	GRCh37
NC_000015.8:g.71408983C>T	NCBI36
NG_009063.1:g.44676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.1574G>A MANE Select	ENSP00000261917.3:p.Arg525His
ENST00000261917.3:c.1574G>A	ENSP00000261917.3:p.Arg525His
NM_005477.2:c.1574G>A	NP_005468.1:p.Arg525His
XM_011521148.1:c.356G>A	XP_011519450.1:p.Arg119His
XM_011521148.2:c.356G>A	XP_011519450.1:p.Arg119His
NM_005477.3:c.1574G>A MANE Select	NP_005468.1:p.Arg525His