Canonical Allele Identifier: CA389052131
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23900674A>T (hg19) chr14:g.23431465A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431465A>T , CM000676.2:g.23431465A>T GRCh38
NC_000014.8:g.23900674A>T , CM000676.1:g.23900674A>T GRCh37
NC_000014.7:g.22970514A>T NCBI36
NG_007884.1:g.9197T>A , LRG_384:g.9197T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.749T>A MANE Select ENSP00000347507.3:p.Ile250Asn
ENST00000355349.3:c.749T>A ENSP00000347507.3:p.Ile250Asn
NM_000257.3:c.749T>A NP_000248.2:p.Ile250Asn
XR_245686.3:n.855T>A
XM_017021340.1:c.749T>A XP_016876829.1:p.Ile250Asn
NM_000257.4:c.749T>A MANE Select NP_000248.2:p.Ile250Asn
Search 100 bp 5'
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