Canonical Allele Identifier: CA7648865

Gene: HCN4

Linked Data

• ClinVar Variation Id: 538077
• ClinVar RCV Id: RCV000647233 ; RCV001117322 ; RCV001562285 ; RCV002449059
• dbSNP Id: rs982016034
• ExAC: 15:73615216 G / A
• gnomAD v2: 15-73615216-G-A
• gnomAD v3: 15-73322875-G-A
• gnomAD v4: 15-73322875-G-A
• MyVariant Identifiers: chr15:g.73615216G>A (hg19) ; chr15:g.73615216_73615243delinsAGGGGTGTGCCCCGGCGCTGGGGGACCT (hg19) ; chr15:g.73322875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322875G>A , CM000677.2:g.73322875G>A	GRCh38
NC_000015.9:g.73615216G>A , CM000677.1:g.73615216G>A	GRCh37
NC_000015.8:g.71402269G>A	NCBI36
NG_009063.1:g.51390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3218C>T MANE Select	ENSP00000261917.3:p.Pro1073Leu
ENST00000261917.3:c.3218C>T	ENSP00000261917.3:p.Pro1073Leu
NM_005477.2:c.3218C>T	NP_005468.1:p.Pro1073Leu
XM_011521148.1:c.2000C>T	XP_011519450.1:p.Pro667Leu
XM_011521148.2:c.2000C>T	XP_011519450.1:p.Pro667Leu
NM_005477.3:c.3218C>T MANE Select	NP_005468.1:p.Pro1073Leu