Canonical Allele Identifier: CA2499222588
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1233725
ClinVar RCV Id: RCV001618907
dbSNP Id: rs45504498
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420238del , CM000676.2:g.23420238del GRCh38
NC_000014.8:g.23889447del , CM000676.1:g.23889447del GRCh37
NC_000014.7:g.22959287del NCBI36
NG_007884.1:g.20425del , LRG_384:g.20425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3337-3del MANE Select ENSP00000347507.3:n.3337-3del
ENST00000355349.3:c.3337-3del ENSP00000347507.3:n.3337-3del
NM_000257.3:c.3337-3del NP_000248.2:n.3337-3del
XR_245686.3:n.3445-3del
XM_017021340.1:c.3337-3del XP_016876829.1:n.3337-3del
NM_000257.4:c.3337-3del MANE Select NP_000248.2:n.3337-3del
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