Canonical Allele Identifier: CA7648946

Gene: HCN4

Linked Data

• ClinVar Variation Id: 538102
• ClinVar RCV Id: RCV000647269 ; RCV001562046 ; RCV002440333
• dbSNP Id: rs777648103
• ExAC: 15:73615604 C / T
• gnomAD v2: 15-73615604-C-T
• gnomAD v3: 15-73323263-C-T
• gnomAD v4: 15-73323263-C-T
• MyVariant Identifiers: chr15:g.73615604C>T (hg19) ; chr15:g.73323263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323263C>T , CM000677.2:g.73323263C>T	GRCh38
NC_000015.9:g.73615604C>T , CM000677.1:g.73615604C>T	GRCh37
NC_000015.8:g.71402657C>T	NCBI36
NG_009063.1:g.51002G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2830G>A MANE Select	ENSP00000261917.3:p.Ala944Thr
ENST00000261917.3:c.2830G>A	ENSP00000261917.3:p.Ala944Thr
NM_005477.2:c.2830G>A	NP_005468.1:p.Ala944Thr
XM_011521148.1:c.1612G>A	XP_011519450.1:p.Ala538Thr
XM_011521148.2:c.1612G>A	XP_011519450.1:p.Ala538Thr
NM_005477.3:c.2830G>A MANE Select	NP_005468.1:p.Ala944Thr