Canonical Allele Identifier: CA046996
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs776020653
ExAC: 14:23902887 AC / A
gnomAD v2: 14-23902887-AC-A
gnomAD v3: 14-23433678-AC-A
gnomAD v4: 14-23433678-AC-A
MyVariant Identifiers: chr14:g.23902888del (hg19) chr14:g.23433679del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433679del , CM000676.2:g.23433679del GRCh38
NC_000014.8:g.23902888del , CM000676.1:g.23902888del GRCh37
NC_000014.7:g.22972728del NCBI36
NG_007884.1:g.6983del , LRG_384:g.6983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.54del MANE Select ENSP00000347507.3:p.Lys18AsnfsTer7
ENST00000355349.3:c.54del ENSP00000347507.3:p.Lys18AsnfsTer7
NM_000257.3:c.54del NP_000248.2:p.Lys18AsnfsTer7
XR_245686.3:n.160del
XM_017021340.1:c.54del XP_016876829.1:p.Lys18AsnfsTer7
NM_000257.4:c.54del MANE Select NP_000248.2:p.Lys18AsnfsTer7
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