Canonical Allele Identifier: CA7648904

Gene: HCN4

Linked Data

• ClinVar Variation Id: 470662
• ClinVar RCV Id: RCV000543038 ; RCV001118932 ; RCV001597168 ; RCV002438454
• dbSNP Id: rs377602893
• ExAC: 15:73615422 C / T
• gnomAD v2: 15-73615422-C-T
• gnomAD v3: 15-73323081-C-T
• gnomAD v4: 15-73323081-C-T
• MyVariant Identifiers: chr15:g.73615422C>T (hg19) ; chr15:g.73323081C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323081C>T , CM000677.2:g.73323081C>T	GRCh38
NC_000015.9:g.73615422C>T , CM000677.1:g.73615422C>T	GRCh37
NC_000015.8:g.71402475C>T	NCBI36
NG_009063.1:g.51184G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.3012G>A MANE Select	ENSP00000261917.3:p.Pro1004=
ENST00000261917.3:c.3012G>A	ENSP00000261917.3:p.Pro1004=
NM_005477.2:c.3012G>A	NP_005468.1:p.Pro1004=
XM_011521148.1:c.1794G>A	XP_011519450.1:p.Pro598=
XM_011521148.2:c.1794G>A	XP_011519450.1:p.Pro598=
NM_005477.3:c.3012G>A MANE Select	NP_005468.1:p.Pro1004=