Canonical Allele Identifier: CA389052274
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23900847G>T (hg19) chr14:g.23431638G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431638G>T , CM000676.2:g.23431638G>T GRCh38
NC_000014.8:g.23900847G>T , CM000676.1:g.23900847G>T GRCh37
NC_000014.7:g.22970687G>T NCBI36
NG_007884.1:g.9024C>A , LRG_384:g.9024C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.679C>A MANE Select ENSP00000347507.3:p.Leu227Met
ENST00000355349.3:c.679C>A ENSP00000347507.3:p.Leu227Met
NM_000257.3:c.679C>A NP_000248.2:p.Leu227Met
XR_245686.3:n.785C>A
XM_017021340.1:c.679C>A XP_016876829.1:p.Leu227Met
NM_000257.4:c.679C>A MANE Select NP_000248.2:p.Leu227Met
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