Canonical Allele Identifier: CA393097881

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1401637
• ClinVar RCV Id: RCV001912999
• dbSNP Id: rs1567801801
• gnomAD v2: 15-73660128-C-T
• gnomAD v3: 15-73367787-C-T
• gnomAD v4: 15-73367787-C-T
• COSMIC: COSM6046119
• MyVariant Identifiers: chr15:g.73660128C>T (hg19) ; chr15:g.73367787C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73367787C>T , CM000677.2:g.73367787C>T	GRCh38
NC_000015.9:g.73660128C>T , CM000677.1:g.73660128C>T	GRCh37
NC_000015.8:g.71447181C>T	NCBI36
NG_009063.1:g.6478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.484G>A MANE Select	ENSP00000261917.3:p.Ala162Thr
ENST00000261917.3:c.484G>A	ENSP00000261917.3:p.Ala162Thr
NM_005477.2:c.484G>A	NP_005468.1:p.Ala162Thr
NM_005477.3:c.484G>A MANE Select	NP_005468.1:p.Ala162Thr