Canonical Allele Identifier: CA016003

Gene: MYH7

Linked Data

• ClinVar Variation Id: 181414
• ClinVar RCV Id: RCV000158896 ; RCV001045070
• dbSNP Id: rs730880935
• gnomAD v4: 14-23415199-GTTC-G
• MyVariant Identifiers: chr14:g.23884409_23884411del (hg19) ; chr14:g.23415200_23415202del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415206_23415208del , CM000676.2:g.23415206_23415208del	GRCh38
NC_000014.8:g.23884415_23884417del , CM000676.1:g.23884415_23884417del	GRCh37
NC_000014.7:g.22954255_22954257del	NCBI36
NG_007884.1:g.25460_25462del , LRG_384:g.25460_25462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5352_5354del MANE Select	ENSP00000347507.3:p.Lys1784del
ENST00000355349.3:c.5352_5354del	ENSP00000347507.3:p.Lys1784del
NM_000257.3:c.5352_5354del	NP_000248.2:p.Lys1784del
XM_017021340.1:c.5352_5354del	XP_016876829.1:p.Lys1784del
NM_000257.4:c.5352_5354del MANE Select	NP_000248.2:p.Lys1784del