Canonical Allele Identifier: CA491479323

Gene: HCN4

Linked Data

• ClinVar Variation Id: 2079771
• ClinVar RCV Id: RCV002998777 ; RCV003382978
• dbSNP Id: rs1478227882
• gnomAD v2: 15-73660231-C-T
• gnomAD v3: 15-73367890-C-T
• gnomAD v4: 15-73367890-C-T
• MyVariant Identifiers: chr15:g.73660231C>T (hg19) ; chr15:g.73367890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73367890C>T , CM000677.2:g.73367890C>T	GRCh38
NC_000015.9:g.73660231C>T , CM000677.1:g.73660231C>T	GRCh37
NC_000015.8:g.71447284C>T	NCBI36
NG_009063.1:g.6375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.381G>A MANE Select	ENSP00000261917.3:p.Glu127=
ENST00000261917.3:c.381G>A	ENSP00000261917.3:p.Glu127=
NM_005477.2:c.381G>A	NP_005468.1:p.Glu127=
NM_005477.3:c.381G>A MANE Select	NP_005468.1:p.Glu127=