Canonical Allele Identifier: CA7648911

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1798480
• ClinVar RCV Id: RCV002442294 ; RCV003102950
• dbSNP Id: rs767626058
• ExAC: 15:73615445 G / T
• gnomAD v2: 15-73615445-G-T
• gnomAD v4: 15-73323104-G-T
• MyVariant Identifiers: chr15:g.73615445G>T (hg19) ; chr15:g.73323104G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323104G>T , CM000677.2:g.73323104G>T	GRCh38
NC_000015.9:g.73615445G>T , CM000677.1:g.73615445G>T	GRCh37
NC_000015.8:g.71402498G>T	NCBI36
NG_009063.1:g.51161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.2989C>A MANE Select	ENSP00000261917.3:p.Pro997Thr
ENST00000261917.3:c.2989C>A	ENSP00000261917.3:p.Pro997Thr
NM_005477.2:c.2989C>A	NP_005468.1:p.Pro997Thr
XM_011521148.1:c.1771C>A	XP_011519450.1:p.Pro591Thr
XM_011521148.2:c.1771C>A	XP_011519450.1:p.Pro591Thr
NM_005477.3:c.2989C>A MANE Select	NP_005468.1:p.Pro997Thr