Canonical Allele Identifier: CA389053622
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23902754G>A (hg19) chr14:g.23433545G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433545G>A , CM000676.2:g.23433545G>A GRCh38
NC_000014.8:g.23902754G>A , CM000676.1:g.23902754G>A GRCh37
NC_000014.7:g.22972594G>A NCBI36
NG_007884.1:g.7117C>T , LRG_384:g.7117C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.188C>T MANE Select ENSP00000347507.3:p.Thr63Ile
ENST00000355349.3:c.188C>T ENSP00000347507.3:p.Thr63Ile
NM_000257.3:c.188C>T NP_000248.2:p.Thr63Ile
XR_245686.3:n.294C>T
XM_017021340.1:c.188C>T XP_016876829.1:p.Thr63Ile
NM_000257.4:c.188C>T MANE Select NP_000248.2:p.Thr63Ile
Search 100 bp 5'
Search 100 bp 3'