Canonical Allele Identifier: CA012568
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42913
ClinVar RCV Id: RCV000143922 RCV000168354 RCV000201461 RCV000223913 RCV000248308 RCV001251000
dbSNP Id: rs397516155
gnomAD v4: 14-23424906-CCTT-C
MyVariant Identifiers: chr14:g.23894116_23894118del (hg19) chr14:g.23424907_23424909del (hg38)
ERepo: CA012568/MONDO:0005045/002
PubMed: PMID:15358028 PMID:18258667 PMID:22429680 PMID:29300372
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424909_23424911del , CM000676.2:g.23424909_23424911del GRCh38
NC_000014.8:g.23894118_23894120del , CM000676.1:g.23894118_23894120del GRCh37
NC_000014.7:g.22963958_22963960del NCBI36
NG_007884.1:g.15753_15755del , LRG_384:g.15753_15755del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2539_2541del MANE Select ENSP00000347507.3:p.Lys847del
ENST00000355349.3:c.2539_2541del ENSP00000347507.3:p.Lys847del
NM_000257.3:c.2539_2541del NP_000248.2:p.Lys847del
XR_245686.3:n.2645_2647del
XM_017021340.1:c.2539_2541del XP_016876829.1:p.Lys847del
NM_000257.4:c.2539_2541del MANE Select NP_000248.2:p.Lys847del
Search 100 bp 5'
Search 100 bp 3'