Canonical Allele Identifier: CA2697553866

Gene: MYH7

Linked Data

• ClinVar Variation Id: 2773918
• ClinVar RCV Id: RCV003532681

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23420021_23420022insA , CM000676.2:g.23420021_23420022insA	GRCh38
NC_000014.8:g.23889230_23889231insA , CM000676.1:g.23889230_23889231insA	GRCh37
NC_000014.7:g.22959070_22959071insA	NCBI36
NG_007884.1:g.20640_20641insT , LRG_384:g.20640_20641insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3549_3550insT MANE Select	ENSP00000347507.3:p.Gln1184SerfsTer?
ENST00000355349.3:c.3549_3550insT	ENSP00000347507.3:p.Gln1184SerfsTer?
NM_000257.3:c.3549_3550insT	NP_000248.2:p.Gln1184SerfsTer?
XM_017021340.1:c.3549_3550insT	XP_016876829.1:p.Gln1184SerfsTer?
NM_000257.4:c.3549_3550insT MANE Select	NP_000248.2:p.Gln1184SerfsTer?