Canonical Allele Identifier: CA7649387

Gene: HCN4

Linked Data

• ClinVar Variation Id: 697174
• ClinVar RCV Id: RCV000863905 ; RCV002381924 ; RCV001731955
• dbSNP Id: rs146954200
• ExAC: 15:73635945 C / T
• gnomAD v2: 15-73635945-C-T
• gnomAD v3: 15-73343604-C-T
• gnomAD v4: 15-73343604-C-T
• COSMIC: COSM1374443
• MyVariant Identifiers: chr15:g.73635945C>T (hg19) ; chr15:g.73343604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73343604C>T , CM000677.2:g.73343604C>T	GRCh38
NC_000015.9:g.73635945C>T , CM000677.1:g.73635945C>T	GRCh37
NC_000015.8:g.71422998C>T	NCBI36
NG_009063.1:g.30661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.990G>A MANE Select	ENSP00000261917.3:p.Pro330=
ENST00000261917.3:c.990G>A	ENSP00000261917.3:p.Pro330=
NM_005477.2:c.990G>A	NP_005468.1:p.Pro330=
NM_005477.3:c.990G>A MANE Select	NP_005468.1:p.Pro330=