Canonical Allele Identifier: CA2123450166
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430871A= , CM000676.2:g.23430871A= GRCh38
NC_000014.8:g.23900080A= , CM000676.1:g.23900080A= GRCh37
NC_000014.7:g.22969920A= NCBI36
NG_007884.1:g.9791T= , LRG_384:g.9791T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.895+30T= MANE Select ENSP00000347507.3:n.895+30T=
ENST00000355349.3:c.895+30T= ENSP00000347507.3:n.895+30T=
NM_000257.3:c.895+30T= NP_000248.2:n.895+30T=
XR_245686.3:n.1001+30T=
XM_017021340.1:c.895+30T= XP_016876829.1:n.895+30T=
NM_000257.4:c.895+30T= MANE Select NP_000248.2:n.895+30T=
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