Canonical Allele Identifier: CA2624255241
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23433863-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433863A>T , CM000676.2:g.23433863A>T GRCh38
NC_000014.8:g.23903072A>T , CM000676.1:g.23903072A>T GRCh37
NC_000014.7:g.22972912A>T NCBI36
NG_007884.1:g.6799T>A , LRG_384:g.6799T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-8-123T>A MANE Select ENSP00000347507.3:n.-8-123T>A
ENST00000355349.3:c.-8-123T>A ENSP00000347507.3:n.-8-123T>A
NM_000257.3:c.-8-123T>A NP_000248.2:n.-8-123T>A
XR_245686.3:n.99-123T>A
XM_017021340.1:c.-8-123T>A XP_016876829.1:n.-8-123T>A
NM_000257.4:c.-8-123T>A MANE Select NP_000248.2:n.-8-123T>A
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