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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:
CA393097706
Gene: HCN4
HGNC
NCBI
Linked Data
dbSNP Id:
rs2043135429
COSMIC:
COSM6375569
MyVariant Identifiers:
chr15:g.73660074C>A (hg19)
chr15:g.73367733C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73367733C>A , CM000677.2:g.73367733C>A
GRCh38
NC_000015.9:g.73660074C>A , CM000677.1:g.73660074C>A
GRCh37
NC_000015.8:g.71447127C>A
NCBI36
NG_009063.1:g.6532G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.538G>T
MANE Select
ENSP00000261917.3:p.Glu180Ter
ENST00000261917.3:c.538G>T
ENSP00000261917.3:p.Glu180Ter
NM_005477.2:c.538G>T
NP_005468.1:p.Glu180Ter
NM_005477.3:c.538G>T
MANE Select
NP_005468.1:p.Glu180Ter
Search 100 bp 5'
Search 100 bp 3'