Canonical Allele Identifier: CA2825002221
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070362
ClinVar RCV Id: RCV004011880
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428997del , CM000676.2:g.23428997del GRCh38
NC_000014.8:g.23898206del , CM000676.1:g.23898206del GRCh37
NC_000014.7:g.22968046del NCBI36
NG_007884.1:g.11665del , LRG_384:g.11665del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1365del MANE Select ENSP00000347507.3:p.Phe456SerfsTer2
ENST00000355349.3:c.1365del ENSP00000347507.3:p.Phe456SerfsTer2
NM_000257.3:c.1365del NP_000248.2:p.Phe456SerfsTer2
XR_245686.3:n.1471del
XM_017021340.1:c.1365del XP_016876829.1:p.Phe456SerfsTer2
NM_000257.4:c.1365del MANE Select NP_000248.2:p.Phe456SerfsTer2
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