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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:
CA010299
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164378
ClinVar RCV Id:
RCV000151296
RCV000522095
dbSNP Id:
rs727503269
MyVariant Identifiers:
chr14:g.23898538T>C (hg19)
chr14:g.23429329T>C (hg38)
ERepo:
CA010299/MONDO:0004994/002
CA010299/MONDO:0005045/002
PubMed:
PMID:29300372
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23429329T>C , CM000676.2:g.23429329T>C
GRCh38
NC_000014.8:g.23898538T>C , CM000676.1:g.23898538T>C
GRCh37
NC_000014.7:g.22968378T>C
NCBI36
NG_007884.1:g.11333A>G , LRG_384:g.11333A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.1157A>G
MANE Select
ENSP00000347507.3:p.Tyr386Cys
ENST00000355349.3:c.1157A>G
ENSP00000347507.3:p.Tyr386Cys
NM_000257.3:c.1157A>G
NP_000248.2:p.Tyr386Cys
XR_245686.3:n.1263A>G
XM_017021340.1:c.1157A>G
XP_016876829.1:p.Tyr386Cys
NM_000257.4:c.1157A>G
MANE Select
NP_000248.2:p.Tyr386Cys
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