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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:
CA393088998
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
595951
ClinVar RCV Id:
RCV002458343
RCV002507298
dbSNP Id:
rs1435000428
gnomAD v2:
15-73616051-G-A
gnomAD v3:
15-73323710-G-A
gnomAD v4:
15-73323710-G-A
MyVariant Identifiers:
chr15:g.73616051G>A (hg19)
chr15:g.73323710G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73323710G>A , CM000677.2:g.73323710G>A
GRCh38
NC_000015.9:g.73616051G>A , CM000677.1:g.73616051G>A
GRCh37
NC_000015.8:g.71403104G>A
NCBI36
NG_009063.1:g.50555C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.2383C>T
MANE Select
ENSP00000261917.3:p.Leu795Phe
ENST00000261917.3:c.2383C>T
ENSP00000261917.3:p.Leu795Phe
NM_005477.2:c.2383C>T
NP_005468.1:p.Leu795Phe
XM_011521148.1:c.1165C>T
XP_011519450.1:p.Leu389Phe
XM_011521148.2:c.1165C>T
XP_011519450.1:p.Leu389Phe
NM_005477.3:c.2383C>T
MANE Select
NP_005468.1:p.Leu795Phe
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