Canonical Allele Identifier: CA7648926
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 519320
ClinVar RCV Id: RCV000620448 RCV000647261 RCV002506504 RCV004533277
dbSNP Id: rs559422705
ExAC: 15:73615518 G / A
gnomAD v2: 15-73615518-G-A
gnomAD v3: 15-73323177-G-A
gnomAD v4: 15-73323177-G-A
MyVariant Identifiers: chr15:g.73615518G>A (hg19) chr15:g.73323177G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323177G>A , CM000677.2:g.73323177G>A GRCh38
NC_000015.9:g.73615518G>A , CM000677.1:g.73615518G>A GRCh37
NC_000015.8:g.71402571G>A NCBI36
NG_009063.1:g.51088C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.2916C>T MANE Select ENSP00000261917.3:p.Pro972=
ENST00000261917.3:c.2916C>T ENSP00000261917.3:p.Pro972=
NM_005477.2:c.2916C>T NP_005468.1:p.Pro972=
XM_011521148.1:c.1698C>T XP_011519450.1:p.Pro566=
XM_011521148.2:c.1698C>T XP_011519450.1:p.Pro566=
NM_005477.3:c.2916C>T MANE Select NP_005468.1:p.Pro972=
Search 100 bp 5'
Search 100 bp 3'