Canonical Allele Identifier: CA011560

Gene: MYH7

Linked Data

• ClinVar Variation Id: 164350
• ClinVar RCV Id: RCV000461116 ; RCV000770495 ; RCV000620591 ; RCV000766426 ; RCV001197245 ; RCV001258093
• dbSNP Id: rs727503263
• gnomAD v4: 14-23426810-G-A
• COSMIC: COSM1369234
• MyVariant Identifiers: chr14:g.23896019G>A (hg19) ; chr14:g.23426810G>A (hg38)
• PubMed: PMID:12707239 ; PMID:12820698 ; PMID:25132132

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23426810G>A , CM000676.2:g.23426810G>A	GRCh38
NC_000014.8:g.23896019G>A , CM000676.1:g.23896019G>A	GRCh37
NC_000014.7:g.22965859G>A	NCBI36
NG_007884.1:g.13852C>T , LRG_384:g.13852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2011C>T MANE Select	ENSP00000347507.3:p.Arg671Cys
ENST00000355349.3:c.2011C>T	ENSP00000347507.3:p.Arg671Cys
NM_000257.3:c.2011C>T	NP_000248.2:p.Arg671Cys
XR_245686.3:n.2117C>T
XM_017021340.1:c.2011C>T	XP_016876829.1:p.Arg671Cys
NM_000257.4:c.2011C>T MANE Select	NP_000248.2:p.Arg671Cys