Canonical Allele Identifier: CA036490
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs746447097
ExAC: 14:23890303 TCAGGAGGGTCCAC / T
gnomAD v2: 14-23890303-TCAGGAGGGTCCAC-T
gnomAD v3: 14-23421094-TCAGGAGGGTCCAC-T
gnomAD v4: 14-23421094-TCAGGAGGGTCCAC-T
MyVariant Identifiers: chr14:g.23890304_23890316del (hg19) chr14:g.23421095_23421107del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23421098_23421110del , CM000676.2:g.23421098_23421110del GRCh38
NC_000014.8:g.23890307_23890319del , CM000676.1:g.23890307_23890319del GRCh37
NC_000014.7:g.22960147_22960159del NCBI36
NG_007884.1:g.19555_19567del , LRG_384:g.19555_19567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3246-59_3246-47del MANE Select ENSP00000347507.3:n.3246-59_3246-47del
ENST00000355349.3:c.3246-59_3246-47del ENSP00000347507.3:n.3246-59_3246-47del
NM_000257.3:c.3246-59_3246-47del NP_000248.2:n.3246-59_3246-47del
XR_245686.3:n.3354-59_3354-47del
XM_017021340.1:c.3246-59_3246-47del XP_016876829.1:n.3246-59_3246-47del
NM_000257.4:c.3246-59_3246-47del MANE Select NP_000248.2:n.3246-59_3246-47del
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