Canonical Allele Identifier: CA2697549206
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2770620
ClinVar RCV Id: RCV003505676
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73367855_73367856delinsAT , CM000677.2:g.73367855_73367856delinsAT GRCh38
NC_000015.9:g.73660196_73660197delinsAT , CM000677.1:g.73660196_73660197delinsAT GRCh37
NC_000015.8:g.71447249_71447250delinsAT NCBI36
NG_009063.1:g.6409_6410delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.415_416delinsAT MANE Select ENSP00000261917.3:p.Pro139Ile
ENST00000261917.3:c.415_416delinsAT ENSP00000261917.3:p.Pro139Ile
NM_005477.2:c.415_416delinsAT NP_005468.1:p.Pro139Ile
NM_005477.3:c.415_416delinsAT MANE Select NP_005468.1:p.Pro139Ile
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