Canonical Allele Identifier: CA613317671
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 951225
ClinVar RCV Id: RCV001223086 RCV001526200 RCV002348745
dbSNP Id: rs1384488225
gnomAD v2: 14-23888804-CT-C
gnomAD v3: 14-23419595-CT-C
gnomAD v4: 14-23419595-CT-C
MyVariant Identifiers: chr14:g.23888805del (hg19) chr14:g.23419596del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419597del , CM000676.2:g.23419597del GRCh38
NC_000014.8:g.23888806del , CM000676.1:g.23888806del GRCh37
NC_000014.7:g.22958646del NCBI36
NG_007884.1:g.21066del , LRG_384:g.21066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3740del MANE Select ENSP00000347507.3:p.Lys1247ArgfsTer10
ENST00000355349.3:c.3740del ENSP00000347507.3:p.Lys1247ArgfsTer10
NM_000257.3:c.3740del NP_000248.2:p.Lys1247ArgfsTer10
XM_017021340.1:c.3740del XP_016876829.1:p.Lys1247ArgfsTer10
NM_000257.4:c.3740del MANE Select NP_000248.2:p.Lys1247ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'