Canonical Allele Identifier: CA704291084
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1308022994
gnomAD v3: 14-23423404-TC-T
gnomAD v4: 14-23423404-TC-T
MyVariant Identifiers: chr14:g.23892614del (hg19) chr14:g.23423405del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423405del , CM000676.2:g.23423405del GRCh38
NC_000014.8:g.23892614del , CM000676.1:g.23892614del GRCh37
NC_000014.7:g.22962454del NCBI36
NG_007884.1:g.17257del , LRG_384:g.17257del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+142del MANE Select ENSP00000347507.3:n.3099+142del
ENST00000355349.3:c.3099+142del ENSP00000347507.3:n.3099+142del
NM_000257.3:c.3099+142del NP_000248.2:n.3099+142del
XR_245686.3:n.3205+142del
XM_017021340.1:c.3099+142del XP_016876829.1:n.3099+142del
NM_000257.4:c.3099+142del MANE Select NP_000248.2:n.3099+142del
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