Canonical Allele Identifier: CA272700301
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 969148
ClinVar RCV Id: RCV001244425 RCV001760278 RCV002339676 RCV002491818
dbSNP Id: rs957058060
gnomAD v2: 15-73660111-C-CGGCGGCGGCGAGGCTGCG
gnomAD v3: 15-73367770-C-CGGCGGCGGCGAGGCTGCG
gnomAD v4: 15-73367770-C-CGGCGGCGGCGAGGCTGCG
MyVariant Identifiers: chr15:g.73660111_73660112insGGCGGCGGCGAGGCTGCG (hg19) chr15:g.73367770_73367771insGGCGGCGGCGAGGCTGCG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73367774_73367791dup , CM000677.2:g.73367774_73367791dup GRCh38
NC_000015.9:g.73660115_73660132dup , CM000677.1:g.73660115_73660132dup GRCh37
NC_000015.8:g.71447168_71447185dup NCBI36
NG_009063.1:g.6477_6494dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.483_500dup MANE Select ENSP00000261917.3:p.Pro167_Pro168insAlaAlaSerProProPro
ENST00000261917.3:c.483_500dup ENSP00000261917.3:p.Pro167_Pro168insAlaAlaSerProProPro
NM_005477.2:c.483_500dup NP_005468.1:p.Pro167_Pro168insAlaAlaSerProProPro
NM_005477.3:c.483_500dup MANE Select NP_005468.1:p.Pro167_Pro168insAlaAlaSerProProPro
Search 100 bp 5'
Search 100 bp 3'