Canonical Allele Identifier: CA7648955
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1594868
ClinVar RCV Id: RCV002108150 RCV002434497
dbSNP Id: rs753331607
ExAC: 15:73615648 A / G
gnomAD v2: 15-73615648-A-G
gnomAD v3: 15-73323307-A-G
gnomAD v4: 15-73323307-A-G
COSMIC: COSM6415343
MyVariant Identifiers: chr15:g.73615648A>G (hg19) chr15:g.73323307A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323307A>G , CM000677.2:g.73323307A>G GRCh38
NC_000015.9:g.73615648A>G , CM000677.1:g.73615648A>G GRCh37
NC_000015.8:g.71402701A>G NCBI36
NG_009063.1:g.50958T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.2786T>C MANE Select ENSP00000261917.3:p.Leu929Pro
ENST00000261917.3:c.2786T>C ENSP00000261917.3:p.Leu929Pro
NM_005477.2:c.2786T>C NP_005468.1:p.Leu929Pro
XM_011521148.1:c.1568T>C XP_011519450.1:p.Leu523Pro
XM_011521148.2:c.1568T>C XP_011519450.1:p.Leu523Pro
NM_005477.3:c.2786T>C MANE Select NP_005468.1:p.Leu929Pro
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