Canonical Allele Identifier: CA7649296

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1092002
• ClinVar RCV Id: RCV001411659 ; RCV002395931
• dbSNP Id: rs764767880
• ExAC: 15:73622100 C / T
• gnomAD v2: 15-73622100-C-T
• gnomAD v3: 15-73329759-C-T
• gnomAD v4: 15-73329759-C-T
• COSMIC: COSM292159
• MyVariant Identifiers: chr15:g.73622100C>T (hg19) ; chr15:g.73329759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73329759C>T , CM000677.2:g.73329759C>T	GRCh38
NC_000015.9:g.73622100C>T , CM000677.1:g.73622100C>T	GRCh37
NC_000015.8:g.71409153C>T	NCBI36
NG_009063.1:g.44506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.1404G>A MANE Select	ENSP00000261917.3:p.Ala468=
ENST00000261917.3:c.1404G>A	ENSP00000261917.3:p.Ala468=
NM_005477.2:c.1404G>A	NP_005468.1:p.Ala468=
XM_011521148.1:c.186G>A	XP_011519450.1:p.Ala62=
XM_011521148.2:c.186G>A	XP_011519450.1:p.Ala62=
NM_005477.3:c.1404G>A MANE Select	NP_005468.1:p.Ala468=