Canonical Allele Identifier: CA7649475

Gene: HCN4

Linked Data

• ClinVar Variation Id: 573242
• ClinVar RCV Id: RCV000694866 ; RCV002332449
• dbSNP Id: rs768272301
• ExAC: 15:73660178 G / A
• gnomAD v2: 15-73660178-G-A
• gnomAD v3: 15-73367837-G-A
• gnomAD v4: 15-73367837-G-A
• MyVariant Identifiers: chr15:g.73660178G>A (hg19) ; chr15:g.73367837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73367837G>A , CM000677.2:g.73367837G>A	GRCh38
NC_000015.9:g.73660178G>A , CM000677.1:g.73660178G>A	GRCh37
NC_000015.8:g.71447231G>A	NCBI36
NG_009063.1:g.6428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.434C>T MANE Select	ENSP00000261917.3:p.Pro145Leu
ENST00000261917.3:c.434C>T	ENSP00000261917.3:p.Pro145Leu
NM_005477.2:c.434C>T	NP_005468.1:p.Pro145Leu
NM_005477.3:c.434C>T MANE Select	NP_005468.1:p.Pro145Leu