Canonical Allele Identifier: CA389050373
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23897750A>T (hg19) chr14:g.23428541A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428541A>T , CM000676.2:g.23428541A>T GRCh38
NC_000014.8:g.23897750A>T , CM000676.1:g.23897750A>T GRCh37
NC_000014.7:g.22967590A>T NCBI36
NG_007884.1:g.12121T>A , LRG_384:g.12121T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1537T>A MANE Select ENSP00000347507.3:p.Phe513Ile
ENST00000355349.3:c.1537T>A ENSP00000347507.3:p.Phe513Ile
NM_000257.3:c.1537T>A NP_000248.2:p.Phe513Ile
XR_245686.3:n.1643T>A
XM_017021340.1:c.1537T>A XP_016876829.1:p.Phe513Ile
NM_000257.4:c.1537T>A MANE Select NP_000248.2:p.Phe513Ile
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