Canonical Allele Identifier: CA7648913
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2104123
ClinVar RCV Id: RCV003022421
dbSNP Id: rs766638102
ExAC: 15:73615458 G / A
gnomAD v2: 15-73615458-G-A
gnomAD v4: 15-73323117-G-A
MyVariant Identifiers: chr15:g.73615458G>A (hg19) chr15:g.73323117G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323117G>A , CM000677.2:g.73323117G>A GRCh38
NC_000015.9:g.73615458G>A , CM000677.1:g.73615458G>A GRCh37
NC_000015.8:g.71402511G>A NCBI36
NG_009063.1:g.51148C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.2976C>T MANE Select ENSP00000261917.3:p.Ser992=
ENST00000261917.3:c.2976C>T ENSP00000261917.3:p.Ser992=
NM_005477.2:c.2976C>T NP_005468.1:p.Ser992=
XM_011521148.1:c.1758C>T XP_011519450.1:p.Ser586=
XM_011521148.2:c.1758C>T XP_011519450.1:p.Ser586=
NM_005477.3:c.2976C>T MANE Select NP_005468.1:p.Ser992=
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