Canonical Allele Identifier: CA203629

Gene: HCN4

Linked Data

• ClinVar Variation Id: 198820
• ClinVar RCV Id: RCV000180273 ; RCV001726025 ; RCV000621437 ; RCV000463104
• dbSNP Id: rs147181577
• ExAC: 15:73614847 C / T
• gnomAD v2: 15-73614847-C-T
• gnomAD v3: 15-73322506-C-T
• gnomAD v4: 15-73322506-C-T
• MyVariant Identifiers: chr15:g.73614847C>T (hg19) ; chr15:g.73322506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322506C>T , CM000677.2:g.73322506C>T	GRCh38
NC_000015.9:g.73614847C>T , CM000677.1:g.73614847C>T	GRCh37
NC_000015.8:g.71401900C>T	NCBI36
NG_009063.1:g.51759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3587G>A MANE Select	ENSP00000261917.3:p.Arg1196His
ENST00000261917.3:c.3587G>A	ENSP00000261917.3:p.Arg1196His
NM_005477.2:c.3587G>A	NP_005468.1:p.Arg1196His
XM_011521148.1:c.2369G>A	XP_011519450.1:p.Arg790His
XM_011521148.2:c.2369G>A	XP_011519450.1:p.Arg790His
NM_005477.3:c.3587G>A MANE Select	NP_005468.1:p.Arg1196His