Canonical Allele Identifier: CA7648843

Gene: HCN4

Linked Data

• ClinVar Variation Id: 538098
• ClinVar RCV Id: RCV000647262 ; RCV001562957 ; RCV002325280 ; RCV002507110
• dbSNP Id: rs375138488
• ExAC: 15:73615083 C / T
• gnomAD v2: 15-73615083-C-T
• gnomAD v3: 15-73322742-C-T
• gnomAD v4: 15-73322742-C-T
• MyVariant Identifiers: chr15:g.73615083C>T (hg19) ; chr15:g.73322742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322742C>T , CM000677.2:g.73322742C>T	GRCh38
NC_000015.9:g.73615083C>T , CM000677.1:g.73615083C>T	GRCh37
NC_000015.8:g.71402136C>T	NCBI36
NG_009063.1:g.51523G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.3351G>A MANE Select	ENSP00000261917.3:p.Pro1117=
ENST00000261917.3:c.3351G>A	ENSP00000261917.3:p.Pro1117=
NM_005477.2:c.3351G>A	NP_005468.1:p.Pro1117=
XM_011521148.1:c.2133G>A	XP_011519450.1:p.Pro711=
XM_011521148.2:c.2133G>A	XP_011519450.1:p.Pro711=
NM_005477.3:c.3351G>A MANE Select	NP_005468.1:p.Pro1117=