Canonical Allele Identifier: CA7649014

Gene: HCN4

Linked Data

• ClinVar Variation Id: 538086
• ClinVar RCV Id: RCV000647243
• dbSNP Id: rs755045071
• ExAC: 15:73615927 G / A
• gnomAD v2: 15-73615927-G-A
• gnomAD v3: 15-73323586-G-A
• gnomAD v4: 15-73323586-G-A
• COSMIC: COSM1735271
• MyVariant Identifiers: chr15:g.73615927G>A (hg19) ; chr15:g.73323586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323586G>A , CM000677.2:g.73323586G>A	GRCh38
NC_000015.9:g.73615927G>A , CM000677.1:g.73615927G>A	GRCh37
NC_000015.8:g.71402980G>A	NCBI36
NG_009063.1:g.50679C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2507C>T MANE Select	ENSP00000261917.3:p.Ala836Val
ENST00000261917.3:c.2507C>T	ENSP00000261917.3:p.Ala836Val
NM_005477.2:c.2507C>T	NP_005468.1:p.Ala836Val
XM_011521148.1:c.1289C>T	XP_011519450.1:p.Ala430Val
XM_011521148.2:c.1289C>T	XP_011519450.1:p.Ala430Val
NM_005477.3:c.2507C>T MANE Select	NP_005468.1:p.Ala836Val