Canonical Allele Identifier: CA704291089
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1370152698
gnomAD v4: 14-23423413-AC-A
MyVariant Identifiers: chr14:g.23892623del (hg19) chr14:g.23423414del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423419del , CM000676.2:g.23423419del GRCh38
NC_000014.8:g.23892628del , CM000676.1:g.23892628del GRCh37
NC_000014.7:g.22962468del NCBI36
NG_007884.1:g.17248del , LRG_384:g.17248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+133del MANE Select ENSP00000347507.3:n.3099+133del
ENST00000355349.3:c.3099+133del ENSP00000347507.3:n.3099+133del
NM_000257.3:c.3099+133del NP_000248.2:n.3099+133del
XR_245686.3:n.3205+133del
XM_017021340.1:c.3099+133del XP_016876829.1:n.3099+133del
NM_000257.4:c.3099+133del MANE Select NP_000248.2:n.3099+133del
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