Canonical Allele Identifier: CA7649325

Gene: HCN4

Linked Data

• ClinVar Variation Id: 392688
• ClinVar RCV Id: RCV000426872 ; RCV001446487 ; RCV002379392
• dbSNP Id: rs780604251
• ExAC: 15:73624505 A / C
• gnomAD v2: 15-73624505-A-C
• gnomAD v3: 15-73332164-A-C
• gnomAD v4: 15-73332164-A-C
• MyVariant Identifiers: chr15:g.73624505A>C (hg19) ; chr15:g.73332164A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73332164A>C , CM000677.2:g.73332164A>C	GRCh38
NC_000015.9:g.73624505A>C , CM000677.1:g.73624505A>C	GRCh37
NC_000015.8:g.71411558A>C	NCBI36
NG_009063.1:g.42101T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.1338T>G MANE Select	ENSP00000261917.3:p.Pro446=
ENST00000261917.3:c.1338T>G	ENSP00000261917.3:p.Pro446=
NM_005477.2:c.1338T>G	NP_005468.1:p.Pro446=
XM_011521148.1:c.120T>G	XP_011519450.1:p.Pro40=
XM_011521148.2:c.120T>G	XP_011519450.1:p.Pro40=
NM_005477.3:c.1338T>G MANE Select	NP_005468.1:p.Pro446=