Canonical Allele Identifier: CA016441

Gene: MYH7

Linked Data

• ClinVar Variation Id: 43088
• ClinVar RCV Id: RCV000035983 ; RCV000132760 ; RCV000192205 ; RCV001329735 ; RCV002510774 ; RCV003149624 ; RCV002513365
• dbSNP Id: rs397516254
• MyVariant Identifiers: chr14:g.23883018C>T (hg19) ; chr14:g.23413809C>T (hg38)
• ERepo: CA016441/MONDO:0005021/002
• PubMed: PMID:20301606 ; PMID:22464770 ; PMID:24503780 ; PMID:24664454 ; PMID:29300372

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23413809C>T , CM000676.2:g.23413809C>T	GRCh38
NC_000014.8:g.23883018C>T , CM000676.1:g.23883018C>T	GRCh37
NC_000014.7:g.22952858C>T	NCBI36
NG_007884.1:g.26853G>A , LRG_384:g.26853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5740G>A MANE Select	ENSP00000347507.3:p.Glu1914Lys
ENST00000355349.3:c.5740G>A	ENSP00000347507.3:p.Glu1914Lys
NM_000257.3:c.5740G>A	NP_000248.2:p.Glu1914Lys
XM_017021340.1:c.5740G>A	XP_016876829.1:p.Glu1914Lys
NM_000257.4:c.5740G>A MANE Select	NP_000248.2:p.Glu1914Lys