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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:
CA010061
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164381
ClinVar RCV Id:
RCV000158778
RCV000792549
RCV002345472
dbSNP Id:
rs727503271
MyVariant Identifiers:
chr14:g.23899110C>T (hg19)
chr14:g.23429901C>T (hg38)
PubMed:
PMID:23690394
ERepo:
CA010061/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23429901C>T , CM000676.2:g.23429901C>T
GRCh38
NC_000014.8:g.23899110C>T , CM000676.1:g.23899110C>T
GRCh37
NC_000014.7:g.22968950C>T
NCBI36
NG_007884.1:g.10761G>A , LRG_384:g.10761G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.1012G>A
MANE Select
ENSP00000347507.3:p.Val338Met
ENST00000355349.3:c.1012G>A
ENSP00000347507.3:p.Val338Met
NM_000257.3:c.1012G>A
NP_000248.2:p.Val338Met
XR_245686.3:n.1118G>A
XM_017021340.1:c.1012G>A
XP_016876829.1:p.Val338Met
NM_000257.4:c.1012G>A
MANE Select
NP_000248.2:p.Val338Met
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