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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:
CA393093962
Gene: HCN4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr15:g.73622072A>C (hg19)
chr15:g.73329731A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73329731A>C , CM000677.2:g.73329731A>C
GRCh38
NC_000015.9:g.73622072A>C , CM000677.1:g.73622072A>C
GRCh37
NC_000015.8:g.71409125A>C
NCBI36
NG_009063.1:g.44534T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.1432T>G
MANE Select
ENSP00000261917.3:p.Cys478Gly
ENST00000261917.3:c.1432T>G
ENSP00000261917.3:p.Cys478Gly
NM_005477.2:c.1432T>G
NP_005468.1:p.Cys478Gly
XM_011521148.1:c.214T>G
XP_011519450.1:p.Cys72Gly
XM_011521148.2:c.214T>G
XP_011519450.1:p.Cys72Gly
NM_005477.3:c.1432T>G
MANE Select
NP_005468.1:p.Cys478Gly
Search 100 bp 5'
Search 100 bp 3'