Canonical Allele Identifier: CA2580087929
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2448061
ClinVar RCV Id: RCV003176770
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415237dup , CM000676.2:g.23415237dup GRCh38
NC_000014.8:g.23884446dup , CM000676.1:g.23884446dup GRCh37
NC_000014.7:g.22954286dup NCBI36
NG_007884.1:g.25425dup , LRG_384:g.25425dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5317dup MANE Select ENSP00000347507.3:p.Gln1773ProfsTer19
ENST00000355349.3:c.5317dup ENSP00000347507.3:p.Gln1773ProfsTer19
NM_000257.3:c.5317dup NP_000248.2:p.Gln1773ProfsTer19
XM_017021340.1:c.5317dup XP_016876829.1:p.Gln1773ProfsTer19
NM_000257.4:c.5317dup MANE Select NP_000248.2:p.Gln1773ProfsTer19
Search 100 bp 5'
Search 100 bp 3'