Canonical Allele Identifier: CA047835
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs556403696
ExAC: 14:23883129 GA / G
gnomAD v2: 14-23883129-GA-G
gnomAD v3: 14-23413920-GA-G
gnomAD v4: 14-23413920-GA-G
MyVariant Identifiers: chr14:g.23883130del (hg19) chr14:g.23413921del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413921del , CM000676.2:g.23413921del GRCh38
NC_000014.8:g.23883130del , CM000676.1:g.23883130del GRCh37
NC_000014.7:g.22952970del NCBI36
NG_007884.1:g.26741del , LRG_384:g.26741del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5656-28del MANE Select ENSP00000347507.3:n.5656-28del
ENST00000355349.3:c.5656-28del ENSP00000347507.3:n.5656-28del
NM_000257.3:c.5656-28del NP_000248.2:n.5656-28del
XM_017021340.1:c.5656-28del XP_016876829.1:n.5656-28del
NM_000257.4:c.5656-28del MANE Select NP_000248.2:n.5656-28del
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