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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:
CA117310
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5173
ClinVar RCV Id:
RCV000005481
dbSNP Id:
rs104894488
MyVariant Identifiers:
chr15:g.73616557G>T (hg19)
chr15:g.73324216G>T (hg38)
PubMed:
PMID:16407510
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73324216G>T , CM000677.2:g.73324216G>T
GRCh38
NC_000015.9:g.73616557G>T , CM000677.1:g.73616557G>T
GRCh37
NC_000015.8:g.71403610G>T
NCBI36
NG_009063.1:g.50049C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.2016C>A
MANE Select
ENSP00000261917.3:p.Ser672Arg
ENST00000261917.3:c.2016C>A
ENSP00000261917.3:p.Ser672Arg
NM_005477.2:c.2016C>A
NP_005468.1:p.Ser672Arg
XM_011521148.1:c.798C>A
XP_011519450.1:p.Ser266Arg
XM_011521148.2:c.798C>A
XP_011519450.1:p.Ser266Arg
NM_005477.3:c.2016C>A
MANE Select
NP_005468.1:p.Ser672Arg
Search 100 bp 5'
Search 100 bp 3'