Canonical Allele Identifier: CA2123457309
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005571
ClinVar RCV Id: RCV001302468 RCV004005009
dbSNP Id: rs1892649223
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425294del , CM000676.2:g.23425294del GRCh38
NC_000014.8:g.23894503del , CM000676.1:g.23894503del GRCh37
NC_000014.7:g.22964343del NCBI36
NG_007884.1:g.15368del , LRG_384:g.15368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2411del MANE Select ENSP00000347507.3:p.Leu804ArgfsTer10
ENST00000355349.3:c.2411del ENSP00000347507.3:p.Leu804ArgfsTer10
NM_000257.3:c.2411del NP_000248.2:p.Leu804ArgfsTer10
XR_245686.3:n.2517del
XM_017021340.1:c.2411del XP_016876829.1:p.Leu804ArgfsTer10
NM_000257.4:c.2411del MANE Select NP_000248.2:p.Leu804ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'