Canonical Allele Identifier: CA7648974
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 538081
ClinVar RCV Id: RCV000647237 RCV001584491 RCV002424488 RCV004533386
dbSNP Id: rs758929649
ExAC: 15:73615765 G / A
gnomAD v2: 15-73615765-G-A
gnomAD v3: 15-73323424-G-A
gnomAD v4: 15-73323424-G-A
COSMIC: COSM3969248
MyVariant Identifiers: chr15:g.73615765G>A (hg19) chr15:g.73323424G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323424G>A , CM000677.2:g.73323424G>A GRCh38
NC_000015.9:g.73615765G>A , CM000677.1:g.73615765G>A GRCh37
NC_000015.8:g.71402818G>A NCBI36
NG_009063.1:g.50841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.2669C>T MANE Select ENSP00000261917.3:p.Pro890Leu
ENST00000261917.3:c.2669C>T ENSP00000261917.3:p.Pro890Leu
NM_005477.2:c.2669C>T NP_005468.1:p.Pro890Leu
XM_011521148.1:c.1451C>T XP_011519450.1:p.Pro484Leu
XM_011521148.2:c.1451C>T XP_011519450.1:p.Pro484Leu
NM_005477.3:c.2669C>T MANE Select NP_005468.1:p.Pro890Leu
Search 100 bp 5'
Search 100 bp 3'