Canonical Allele Identifier: CA272664364

Gene: HCN4

Linked Data

• ClinVar Variation Id: 470657
• ClinVar RCV Id: RCV000540827 ; RCV001591252 ; RCV002431666
• dbSNP Id: rs370669201
• gnomAD v2: 15-73615739-C-T
• gnomAD v3: 15-73323398-C-T
• gnomAD v4: 15-73323398-C-T
• MyVariant Identifiers: chr15:g.73615739C>T (hg19) ; chr15:g.73323398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323398C>T , CM000677.2:g.73323398C>T	GRCh38
NC_000015.9:g.73615739C>T , CM000677.1:g.73615739C>T	GRCh37
NC_000015.8:g.71402792C>T	NCBI36
NG_009063.1:g.50867G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2695G>A MANE Select	ENSP00000261917.3:p.Val899Ile
ENST00000261917.3:c.2695G>A	ENSP00000261917.3:p.Val899Ile
NM_005477.2:c.2695G>A	NP_005468.1:p.Val899Ile
XM_011521148.1:c.1477G>A	XP_011519450.1:p.Val493Ile
XM_011521148.2:c.1477G>A	XP_011519450.1:p.Val493Ile
NM_005477.3:c.2695G>A MANE Select	NP_005468.1:p.Val899Ile