Canonical Allele Identifier: CA301969

Gene: HCN4

Linked Data

• ClinVar Variation Id: 190786
• ClinVar RCV Id: RCV000170945 ; RCV000763984 ; RCV000533549 ; RCV002326935
• dbSNP Id: rs773857091
• ExAC: 15:73660194 C / T
• gnomAD v2: 15-73660194-C-T
• gnomAD v3: 15-73367853-C-T
• gnomAD v4: 15-73367853-C-T
• MyVariant Identifiers: chr15:g.73660194C>T (hg19) ; chr15:g.73660194_73660195delinsTG (hg19) ; chr15:g.73367853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73367853C>T , CM000677.2:g.73367853C>T	GRCh38
NC_000015.9:g.73660194C>T , CM000677.1:g.73660194C>T	GRCh37
NC_000015.8:g.71447247C>T	NCBI36
NG_009063.1:g.6412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.418G>A MANE Select	ENSP00000261917.3:p.Gly140Ser
ENST00000261917.3:c.418G>A	ENSP00000261917.3:p.Gly140Ser
NM_005477.2:c.418G>A	NP_005468.1:p.Gly140Ser
NM_005477.3:c.418G>A MANE Select	NP_005468.1:p.Gly140Ser