Canonical Allele Identifier: CA491478272

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1089540
• ClinVar RCV Id: RCV001408404 ; RCV002432130
• dbSNP Id: rs1372157927
• gnomAD v2: 15-73615941-G-T
• gnomAD v3: 15-73323600-G-T
• gnomAD v4: 15-73323600-G-T
• MyVariant Identifiers: chr15:g.73615941G>T (hg19) ; chr15:g.73323600G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323600G>T , CM000677.2:g.73323600G>T	GRCh38
NC_000015.9:g.73615941G>T , CM000677.1:g.73615941G>T	GRCh37
NC_000015.8:g.71402994G>T	NCBI36
NG_009063.1:g.50665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.2493C>A MANE Select	ENSP00000261917.3:p.Ser831=
ENST00000261917.3:c.2493C>A	ENSP00000261917.3:p.Ser831=
NM_005477.2:c.2493C>A	NP_005468.1:p.Ser831=
XM_011521148.1:c.1275C>A	XP_011519450.1:p.Ser425=
XM_011521148.2:c.1275C>A	XP_011519450.1:p.Ser425=
NM_005477.3:c.2493C>A MANE Select	NP_005468.1:p.Ser831=