Canonical Allele Identifier: CA291166
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 137539
ClinVar RCV Id: RCV000125349 RCV000619429 RCV001115976 RCV001521438
dbSNP Id: rs12909882
ExAC: 15:73621946 G / A
gnomAD v2: 15-73621946-G-A
gnomAD v3: 15-73329605-G-A
gnomAD v4: 15-73329605-G-A
MyVariant Identifiers: chr15:g.73621946G>A (hg19) chr15:g.73329605G>A (hg38)
PubMed: PMID:21615589 PMID:23623143 PMID:23631727 PMID:27439367 PMID:27553229
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73329605G>A , CM000677.2:g.73329605G>A GRCh38
NC_000015.9:g.73621946G>A , CM000677.1:g.73621946G>A GRCh37
NC_000015.8:g.71408999G>A NCBI36
NG_009063.1:g.44660C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.1558C>T MANE Select ENSP00000261917.3:p.Leu520=
ENST00000261917.3:c.1558C>T ENSP00000261917.3:p.Leu520=
NM_005477.2:c.1558C>T NP_005468.1:p.Leu520=
XM_011521148.1:c.340C>T XP_011519450.1:p.Leu114=
XM_011521148.2:c.340C>T XP_011519450.1:p.Leu114=
NM_005477.3:c.1558C>T MANE Select NP_005468.1:p.Leu520=
Search 100 bp 5'
Search 100 bp 3'