Canonical Allele Identifier: CA7649443
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 765130
ClinVar RCV Id: RCV001393636
dbSNP Id: rs764818507
ExAC: 15:73659958 G / A
gnomAD v2: 15-73659958-G-A
gnomAD v4: 15-73367617-G-A
COSMIC: COSM964685
MyVariant Identifiers: chr15:g.73659958G>A (hg19) chr15:g.73367617G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73367617G>A , CM000677.2:g.73367617G>A GRCh38
NC_000015.9:g.73659958G>A , CM000677.1:g.73659958G>A GRCh37
NC_000015.8:g.71447011G>A NCBI36
NG_009063.1:g.6648C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.654C>T MANE Select ENSP00000261917.3:p.Phe218=
ENST00000261917.3:c.654C>T ENSP00000261917.3:p.Phe218=
NM_005477.2:c.654C>T NP_005468.1:p.Phe218=
NM_005477.3:c.654C>T MANE Select NP_005468.1:p.Phe218=
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