Canonical Allele Identifier: CA163178
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 137542
ClinVar RCV Id: RCV000125353 RCV000232306 RCV000577973 RCV000578029 RCV000620859 RCV000711887 RCV000852708
dbSNP Id: rs148398509
ExAC: 15:73615786 G / C
gnomAD v2: 15-73615786-G-C
gnomAD v3: 15-73323445-G-C
gnomAD v4: 15-73323445-G-C
MyVariant Identifiers: chr15:g.73615786G>C (hg19) chr15:g.73323445G>C (hg38)
PubMed: PMID:23861362 PMID:25145518 PMID:27173043 PMID:28104484
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323445G>C , CM000677.2:g.73323445G>C GRCh38
NC_000015.9:g.73615786G>C , CM000677.1:g.73615786G>C GRCh37
NC_000015.8:g.71402839G>C NCBI36
NG_009063.1:g.50820C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.2648C>G MANE Select ENSP00000261917.3:p.Pro883Arg
ENST00000261917.3:c.2648C>G ENSP00000261917.3:p.Pro883Arg
NM_005477.2:c.2648C>G NP_005468.1:p.Pro883Arg
XM_011521148.1:c.1430C>G XP_011519450.1:p.Pro477Arg
XM_011521148.2:c.1430C>G XP_011519450.1:p.Pro477Arg
NM_005477.3:c.2648C>G MANE Select NP_005468.1:p.Pro883Arg
Search 100 bp 5'
Search 100 bp 3'