Canonical Allele Identifier: CA2573149874
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507659
ClinVar RCV Id: RCV002013569
dbSNP Id: rs2138680236
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430990dup , CM000676.2:g.23430990dup GRCh38
NC_000014.8:g.23900199dup , CM000676.1:g.23900199dup GRCh37
NC_000014.7:g.22970039dup NCBI36
NG_007884.1:g.9676dup , LRG_384:g.9676dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.810dup MANE Select ENSP00000347507.3:p.Ser271IlefsTer22
ENST00000355349.3:c.810dup ENSP00000347507.3:p.Ser271IlefsTer22
NM_000257.3:c.810dup NP_000248.2:p.Ser271IlefsTer22
XR_245686.3:n.916dup
XM_017021340.1:c.810dup XP_016876829.1:p.Ser271IlefsTer22
NM_000257.4:c.810dup MANE Select NP_000248.2:p.Ser271IlefsTer22
Search 100 bp 5'
Search 100 bp 3'