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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:
CA393093467
Gene: HCN4
HGNC
NCBI
Linked Data
COSMIC:
COSM5612018
MyVariant Identifiers:
chr15:g.73621948G>C (hg19)
chr15:g.73329607G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73329607G>C , CM000677.2:g.73329607G>C
GRCh38
NC_000015.9:g.73621948G>C , CM000677.1:g.73621948G>C
GRCh37
NC_000015.8:g.71409001G>C
NCBI36
NG_009063.1:g.44658C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.1556C>G
MANE Select
ENSP00000261917.3:p.Ser519Cys
ENST00000261917.3:c.1556C>G
ENSP00000261917.3:p.Ser519Cys
NM_005477.2:c.1556C>G
NP_005468.1:p.Ser519Cys
XM_011521148.1:c.338C>G
XP_011519450.1:p.Ser113Cys
XM_011521148.2:c.338C>G
XP_011519450.1:p.Ser113Cys
NM_005477.3:c.1556C>G
MANE Select
NP_005468.1:p.Ser519Cys
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