Canonical Allele Identifier: CA704269521
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1398266163
gnomAD v4: 14-23431833-CT-C
MyVariant Identifiers: chr14:g.23901043del (hg19) chr14:g.23431834del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431835del , CM000676.2:g.23431835del GRCh38
NC_000014.8:g.23901044del , CM000676.1:g.23901044del GRCh37
NC_000014.7:g.22970884del NCBI36
NG_007884.1:g.8828del , LRG_384:g.8828del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.566del MANE Select ENSP00000347507.3:p.Lys189ArgfsTer?
ENST00000355349.3:c.566del ENSP00000347507.3:p.Lys189ArgfsTer?
NM_000257.3:c.566del NP_000248.2:p.Lys189ArgfsTer?
XR_245686.3:n.672del
XM_017021340.1:c.566del XP_016876829.1:p.Lys189ArgfsTer?
NM_000257.4:c.566del MANE Select NP_000248.2:p.Lys189ArgfsTer?
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