Canonical Allele Identifier: CA012249
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 132911
ClinVar RCV Id: RCV000148959
dbSNP Id: rs606231337
MyVariant Identifiers: chr14:g.23894548del (hg19) chr14:g.23425339del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425339del , CM000676.2:g.23425339del GRCh38
NC_000014.8:g.23894548del , CM000676.1:g.23894548del GRCh37
NC_000014.7:g.22964388del NCBI36
NG_007884.1:g.15323del , LRG_384:g.15323del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2366del MANE Select ENSP00000347507.3:p.Gln789ArgfsTer25
ENST00000355349.3:c.2366del ENSP00000347507.3:p.Gln789ArgfsTer25
NM_000257.3:c.2366del NP_000248.2:p.Gln789ArgfsTer25
XR_245686.3:n.2472del
XM_017021340.1:c.2366del XP_016876829.1:p.Gln789ArgfsTer25
NM_000257.4:c.2366del MANE Select NP_000248.2:p.Gln789ArgfsTer25
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