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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:
CA393089145
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1694760
ClinVar RCV Id:
RCV002262480
dbSNP Id:
rs763021264
gnomAD v4:
15-73323784-G-T
MyVariant Identifiers:
chr15:g.73616125G>T (hg19)
chr15:g.73323784G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73323784G>T , CM000677.2:g.73323784G>T
GRCh38
NC_000015.9:g.73616125G>T , CM000677.1:g.73616125G>T
GRCh37
NC_000015.8:g.71403178G>T
NCBI36
NG_009063.1:g.50481C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.2309C>A
MANE Select
ENSP00000261917.3:p.Thr770Lys
ENST00000261917.3:c.2309C>A
ENSP00000261917.3:p.Thr770Lys
NM_005477.2:c.2309C>A
NP_005468.1:p.Thr770Lys
XM_011521148.1:c.1091C>A
XP_011519450.1:p.Thr364Lys
XM_011521148.2:c.1091C>A
XP_011519450.1:p.Thr364Lys
NM_005477.3:c.2309C>A
MANE Select
NP_005468.1:p.Thr770Lys
Search 100 bp 5'
Search 100 bp 3'