Canonical Allele Identifier: CA016781
Community Standard Title: NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431468C>T , CM000676.2:g.23431468C>T GRCh38
NC_000014.8:g.23900677C>T , CM000676.1:g.23900677C>T GRCh37
NC_000014.7:g.22970517C>T NCBI36
NG_007884.1:g.9194G>A , LRG_384:g.9194G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.746G>A MANE Select NP_000248.2:p.Arg249Gln
ENST00000355349.4:c.746G>A MANE Select ENSP00000347507.3:p.Arg249Gln
NM_000257.3:c.746G>A NP_000248.2:p.Arg249Gln
ENST00000355349.3:c.746G>A ENSP00000347507.3:p.Arg249Gln
XM_017021340.1:c.746G>A XP_016876829.1:p.Arg249Gln
XR_245686.3:n.852G>A
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