Canonical Allele Identifier: CA301971

Gene: HCN4

Linked Data

• ClinVar Variation Id: 190787
• ClinVar RCV Id: RCV000170946 ; RCV000497368 ; RCV000467858 ; RCV002485073 ; RCV002336402
• dbSNP Id: rs542532555
• ExAC: 15:73660092 G / A
• gnomAD v2: 15-73660092-G-A
• gnomAD v3: 15-73367751-G-A
• gnomAD v4: 15-73367751-G-A
• MyVariant Identifiers: chr15:g.73660092G>A (hg19) ; chr15:g.73367751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73367751G>A , CM000677.2:g.73367751G>A	GRCh38
NC_000015.9:g.73660092G>A , CM000677.1:g.73660092G>A	GRCh37
NC_000015.8:g.71447145G>A	NCBI36
NG_009063.1:g.6514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.520C>T MANE Select	ENSP00000261917.3:p.Pro174Ser
ENST00000261917.3:c.520C>T	ENSP00000261917.3:p.Pro174Ser
NM_005477.2:c.520C>T	NP_005468.1:p.Pro174Ser
NM_005477.3:c.520C>T MANE Select	NP_005468.1:p.Pro174Ser