Canonical Allele Identifier: CA2123456498
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434005C= , CM000676.2:g.23434005C= GRCh38
NC_000014.8:g.23903214C= , CM000676.1:g.23903214C= GRCh37
NC_000014.7:g.22973054C= NCBI36
NG_007884.1:g.6657G= , LRG_384:g.6657G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+189G= MANE Select ENSP00000347507.3:n.-9+189G=
ENST00000355349.3:c.-9+189G= ENSP00000347507.3:n.-9+189G=
NM_000257.3:c.-9+189G= NP_000248.2:n.-9+189G=
XR_245686.3:n.98+189G=
XM_017021340.1:c.-8-265G= XP_016876829.1:n.-8-265G=
NM_000257.4:c.-9+189G= MANE Select NP_000248.2:n.-9+189G=
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