Canonical Allele Identifier: CA247665

Gene: HCN4

Linked Data

• ClinVar Variation Id: 198828
• ClinVar RCV Id: RCV000180282 ; RCV000647231
• dbSNP Id: rs373284500
• ExAC: 15:73616161 C / T
• gnomAD v2: 15-73616161-C-T
• gnomAD v3: 15-73323820-C-T
• gnomAD v4: 15-73323820-C-T
• MyVariant Identifiers: chr15:g.73616161C>T (hg19) ; chr15:g.73323820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323820C>T , CM000677.2:g.73323820C>T	GRCh38
NC_000015.9:g.73616161C>T , CM000677.1:g.73616161C>T	GRCh37
NC_000015.8:g.71403214C>T	NCBI36
NG_009063.1:g.50445G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2273G>A MANE Select	ENSP00000261917.3:p.Arg758His
ENST00000261917.3:c.2273G>A	ENSP00000261917.3:p.Arg758His
NM_005477.2:c.2273G>A	NP_005468.1:p.Arg758His
XM_011521148.1:c.1055G>A	XP_011519450.1:p.Arg352His
XM_011521148.2:c.1055G>A	XP_011519450.1:p.Arg352His
NM_005477.3:c.2273G>A MANE Select	NP_005468.1:p.Arg758His