Canonical Allele Identifier: CA10587768
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 263706
ClinVar RCV Id: RCV000252283 RCV001211960
dbSNP Id: rs886038901
MyVariant Identifiers: chr14:g.23893152del (hg19) chr14:g.23423943del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423944del , CM000676.2:g.23423944del GRCh38
NC_000014.8:g.23893153del , CM000676.1:g.23893153del GRCh37
NC_000014.7:g.22962993del NCBI36
NG_007884.1:g.16719del , LRG_384:g.16719del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2886del MANE Select ENSP00000347507.3:p.Val964TrpfsTer12
ENST00000355349.3:c.2886del ENSP00000347507.3:p.Val964TrpfsTer12
NM_000257.3:c.2886del NP_000248.2:p.Val964TrpfsTer12
XR_245686.3:n.2992del
XM_017021340.1:c.2886del XP_016876829.1:p.Val964TrpfsTer12
NM_000257.4:c.2886del MANE Select NP_000248.2:p.Val964TrpfsTer12
Search 100 bp 5'
Search 100 bp 3'