Canonical Allele Identifier: CA010192

Gene: MYH7

Linked Data

• ClinVar Variation Id: 42822
• ClinVar RCV Id: RCV000035698 ; RCV000223685 ; RCV000487437 ; RCV000491937 ; RCV000544985 ; RCV000587847 ; RCV001798093 ; RCV003320043 ; RCV004545737
• dbSNP Id: rs397516089
• gnomAD v4: 14-23429807-C-T
• MyVariant Identifiers: chr14:g.23899016C>T (hg19) ; chr14:g.23429807C>T (hg38)
• ERepo: CA010192/MONDO:0005021/002
• PubMed: PMID:18519860 ; PMID:20031619 ; PMID:20530761 ; PMID:22464770 ; PMID:24503780 ; PMID:24691700 ; PMID:27532257 ; PMID:29300372

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23429807C>T , CM000676.2:g.23429807C>T	GRCh38
NC_000014.8:g.23899016C>T , CM000676.1:g.23899016C>T	GRCh37
NC_000014.7:g.22968856C>T	NCBI36
NG_007884.1:g.10855G>A , LRG_384:g.10855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.1106G>A MANE Select	ENSP00000347507.3:p.Arg369Gln
ENST00000355349.3:c.1106G>A	ENSP00000347507.3:p.Arg369Gln
NM_000257.3:c.1106G>A	NP_000248.2:p.Arg369Gln
XR_245686.3:n.1212G>A
XM_017021340.1:c.1106G>A	XP_016876829.1:p.Arg369Gln
NM_000257.4:c.1106G>A MANE Select	NP_000248.2:p.Arg369Gln