Canonical Allele Identifier: CA257827072
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs759255808
gnomAD v3: 14-23433940-CT-C
gnomAD v4: 14-23433940-CT-C
MyVariant Identifiers: chr14:g.23903150del (hg19) chr14:g.23433941del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433941del , CM000676.2:g.23433941del GRCh38
NC_000014.8:g.23903150del , CM000676.1:g.23903150del GRCh37
NC_000014.7:g.22972990del NCBI36
NG_007884.1:g.6721del , LRG_384:g.6721del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-8-201del MANE Select ENSP00000347507.3:n.-8-201del
ENST00000355349.3:c.-8-201del ENSP00000347507.3:n.-8-201del
NM_000257.3:c.-8-201del NP_000248.2:n.-8-201del
XR_245686.3:n.99-201del
XM_017021340.1:c.-8-201del XP_016876829.1:n.-8-201del
NM_000257.4:c.-8-201del MANE Select NP_000248.2:n.-8-201del
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