Canonical Allele Identifier: CA012755
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42919
ClinVar RCV Id: RCV000035809 RCV001347585 RCV002426555
dbSNP Id: rs397516159
MyVariant Identifiers: chr14:g.23894032_23894034del (hg19) chr14:g.23424823_23424825del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424827_23424829del , CM000676.2:g.23424827_23424829del GRCh38
NC_000014.8:g.23894036_23894038del , CM000676.1:g.23894036_23894038del GRCh37
NC_000014.7:g.22963876_22963878del NCBI36
NG_007884.1:g.15837_15839del , LRG_384:g.15837_15839del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2623_2625del MANE Select ENSP00000347507.3:p.Glu875del
ENST00000355349.3:c.2623_2625del ENSP00000347507.3:p.Glu875del
NM_000257.3:c.2623_2625del NP_000248.2:p.Glu875del
XR_245686.3:n.2729_2731del
XM_017021340.1:c.2623_2625del XP_016876829.1:p.Glu875del
NM_000257.4:c.2623_2625del MANE Select NP_000248.2:p.Glu875del
Search 100 bp 5'
Search 100 bp 3'