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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA715578052
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2904347
ClinVar RCV Id:
RCV003615328
dbSNP Id:
rs1414048036
gnomAD v4:
15-73367973-GGCTCCCGCGGAA-G
MyVariant Identifiers:
chr15:g.73660315_73660326del (hg19)
chr15:g.73367974_73367985del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73367976_73367987del , CM000677.2:g.73367976_73367987del
GRCh38
NC_000015.9:g.73660317_73660328del , CM000677.1:g.73660317_73660328del
GRCh37
NC_000015.8:g.71447370_71447381del
NCBI36
NG_009063.1:g.6280_6291del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261917.4:c.286_297del
MANE Select
ENSP00000261917.3:p.Phe96_Ser99del
ENST00000261917.3:c.286_297del
ENSP00000261917.3:p.Phe96_Ser99del
NM_005477.2:c.286_297del
NP_005468.1:p.Phe96_Ser99del
NM_005477.3:c.286_297del
MANE Select
NP_005468.1:p.Phe96_Ser99del
Search 100 bp 5'
Search 100 bp 3'