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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:
CA10576962
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228919
ClinVar RCV Id:
RCV000214819
RCV000796059
RCV002274965
RCV002363075
dbSNP Id:
rs876657888
MyVariant Identifiers:
chr14:g.23900840G>A (hg19)
chr14:g.23431631G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23431631G>A , CM000676.2:g.23431631G>A
GRCh38
NC_000014.8:g.23900840G>A , CM000676.1:g.23900840G>A
GRCh37
NC_000014.7:g.22970680G>A
NCBI36
NG_007884.1:g.9031C>T , LRG_384:g.9031C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.686C>T
MANE Select
ENSP00000347507.3:p.Ala229Val
ENST00000355349.3:c.686C>T
ENSP00000347507.3:p.Ala229Val
NM_000257.3:c.686C>T
NP_000248.2:p.Ala229Val
XR_245686.3:n.792C>T
XM_017021340.1:c.686C>T
XP_016876829.1:p.Ala229Val
NM_000257.4:c.686C>T
MANE Select
NP_000248.2:p.Ala229Val
Search 100 bp 5'
Search 100 bp 3'