Canonical Allele Identifier: CA257807808
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs922298255
gnomAD v3: 14-23413950-TG-T
gnomAD v4: 14-23413950-TG-T
MyVariant Identifiers: chr14:g.23883160del (hg19) chr14:g.23413951del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413955del , CM000676.2:g.23413955del GRCh38
NC_000014.8:g.23883164del , CM000676.1:g.23883164del GRCh37
NC_000014.7:g.22953004del NCBI36
NG_007884.1:g.26711del , LRG_384:g.26711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5655+56del MANE Select ENSP00000347507.3:n.5655+56del
ENST00000355349.3:c.5655+56del ENSP00000347507.3:n.5655+56del
NM_000257.3:c.5655+56del NP_000248.2:n.5655+56del
XM_017021340.1:c.5655+56del XP_016876829.1:n.5655+56del
NM_000257.4:c.5655+56del MANE Select NP_000248.2:n.5655+56del
Search 100 bp 5'
Search 100 bp 3'