Canonical Allele Identifier: CA7649035

Gene: HCN4

Linked Data

• ClinVar Variation Id: 426219
• ClinVar RCV Id: RCV000489092 ; RCV000852709 ; RCV001060460 ; RCV002527021
• dbSNP Id: rs375180021
• ExAC: 15:73616035 C / T
• gnomAD v2: 15-73616035-C-T
• gnomAD v3: 15-73323694-C-T
• gnomAD v4: 15-73323694-C-T
• MyVariant Identifiers: chr15:g.73616035C>T (hg19) ; chr15:g.73323694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323694C>T , CM000677.2:g.73323694C>T	GRCh38
NC_000015.9:g.73616035C>T , CM000677.1:g.73616035C>T	GRCh37
NC_000015.8:g.71403088C>T	NCBI36
NG_009063.1:g.50571G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2399G>A MANE Select	ENSP00000261917.3:p.Arg800His
ENST00000261917.3:c.2399G>A	ENSP00000261917.3:p.Arg800His
NM_005477.2:c.2399G>A	NP_005468.1:p.Arg800His
XM_011521148.1:c.1181G>A	XP_011519450.1:p.Arg394His
XM_011521148.2:c.1181G>A	XP_011519450.1:p.Arg394His
NM_005477.3:c.2399G>A MANE Select	NP_005468.1:p.Arg800His