Canonical Allele Identifier: CA2123455517
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433476G= , CM000676.2:g.23433476G= GRCh38
NC_000014.8:g.23902685G= , CM000676.1:g.23902685G= GRCh37
NC_000014.7:g.22972525G= NCBI36
NG_007884.1:g.7186C= , LRG_384:g.7186C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.201+56C= MANE Select ENSP00000347507.3:n.201+56C=
ENST00000355349.3:c.201+56C= ENSP00000347507.3:n.201+56C=
NM_000257.3:c.201+56C= NP_000248.2:n.201+56C=
XR_245686.3:n.307+56C=
XM_017021340.1:c.201+56C= XP_016876829.1:n.201+56C=
NM_000257.4:c.201+56C= MANE Select NP_000248.2:n.201+56C=
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