Canonical Allele Identifier: CA301971
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 190787
ClinVar RCV Id: RCV000170946 RCV000497368 RCV000467858 RCV002485073 RCV002336402
dbSNP Id: rs542532555
ExAC: 15:73660092 G / A
gnomAD v2: 15-73660092-G-A
gnomAD v3: 15-73367751-G-A
gnomAD v4: 15-73367751-G-A
MyVariant Identifiers: chr15:g.73660092G>A (hg19) chr15:g.73367751G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73367751G>A , CM000677.2:g.73367751G>A GRCh38
NC_000015.9:g.73660092G>A , CM000677.1:g.73660092G>A GRCh37
NC_000015.8:g.71447145G>A NCBI36
NG_009063.1:g.6514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.520C>T MANE Select ENSP00000261917.3:p.Pro174Ser
ENST00000261917.3:c.520C>T ENSP00000261917.3:p.Pro174Ser
NM_005477.2:c.520C>T NP_005468.1:p.Pro174Ser
NM_005477.3:c.520C>T MANE Select NP_005468.1:p.Pro174Ser
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Search 100 bp 3'