Canonical Allele Identifier: CA2123455369
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433390G= , CM000676.2:g.23433390G= GRCh38
NC_000014.8:g.23902599G= , CM000676.1:g.23902599G= GRCh37
NC_000014.7:g.22972439G= NCBI36
NG_007884.1:g.7272C= , LRG_384:g.7272C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.201+142C= MANE Select ENSP00000347507.3:n.201+142C=
ENST00000355349.3:c.201+142C= ENSP00000347507.3:n.201+142C=
NM_000257.3:c.201+142C= NP_000248.2:n.201+142C=
XR_245686.3:n.307+142C=
XM_017021340.1:c.201+142C= XP_016876829.1:n.201+142C=
NM_000257.4:c.201+142C= MANE Select NP_000248.2:n.201+142C=
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