Canonical Allele Identifier: CA2697553845
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773960
ClinVar RCV Id: RCV003532722

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429001dup , CM000676.2:g.23429001dup GRCh38
NC_000014.8:g.23898210dup , CM000676.1:g.23898210dup GRCh37
NC_000014.7:g.22968050dup NCBI36
NG_007884.1:g.11661dup , LRG_384:g.11661dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1361dup MANE Select ENSP00000347507.3:p.Tyr455ValfsTer20
ENST00000355349.3:c.1361dup ENSP00000347507.3:p.Tyr455ValfsTer20
NM_000257.3:c.1361dup NP_000248.2:p.Tyr455ValfsTer20
XR_245686.3:n.1467dup
XM_017021340.1:c.1361dup XP_016876829.1:p.Tyr455ValfsTer20
NM_000257.4:c.1361dup MANE Select NP_000248.2:p.Tyr455ValfsTer20