Canonical Allele Identifier: CA7648868

Gene: HCN4

Linked Data

• ClinVar Variation Id: 404136
• ClinVar RCV Id: RCV000465826 ; RCV000786319 ; RCV002289585 ; RCV002446767
• dbSNP Id: rs772839442
• ExAC: 15:73615225 C / T
• gnomAD v2: 15-73615225-C-T
• gnomAD v3: 15-73322884-C-T
• gnomAD v4: 15-73322884-C-T
• MyVariant Identifiers: chr15:g.73615225C>T (hg19) ; chr15:g.73322884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322884C>T , CM000677.2:g.73322884C>T	GRCh38
NC_000015.9:g.73615225C>T , CM000677.1:g.73615225C>T	GRCh37
NC_000015.8:g.71402278C>T	NCBI36
NG_009063.1:g.51381G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.3209G>A MANE Select	ENSP00000261917.3:p.Gly1070Asp
ENST00000261917.3:c.3209G>A	ENSP00000261917.3:p.Gly1070Asp
NM_005477.2:c.3209G>A	NP_005468.1:p.Gly1070Asp
XM_011521148.1:c.1991G>A	XP_011519450.1:p.Gly664Asp
XM_011521148.2:c.1991G>A	XP_011519450.1:p.Gly664Asp
NM_005477.3:c.3209G>A MANE Select	NP_005468.1:p.Gly1070Asp