Canonical Allele Identifier: CA032999
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs768695483
ExAC: 14:23894186 AC / A
gnomAD v2: 14-23894186-AC-A
gnomAD v4: 14-23424977-AC-A
MyVariant Identifiers: chr14:g.23894187del (hg19) chr14:g.23424978del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424982del , CM000676.2:g.23424982del GRCh38
NC_000014.8:g.23894191del , CM000676.1:g.23894191del GRCh37
NC_000014.7:g.22964031del NCBI36
NG_007884.1:g.15684del , LRG_384:g.15684del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2470del MANE Select ENSP00000347507.3:p.Val824SerfsTer7
ENST00000355349.3:c.2470del ENSP00000347507.3:p.Val824SerfsTer7
NM_000257.3:c.2470del NP_000248.2:p.Val824SerfsTer7
XR_245686.3:n.2576del
XM_017021340.1:c.2470del XP_016876829.1:p.Val824SerfsTer7
NM_000257.4:c.2470del MANE Select NP_000248.2:p.Val824SerfsTer7
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