Canonical Allele Identifier: CA014422

Gene: MYH7

Linked Data

• ClinVar Variation Id: 178082
• ClinVar RCV Id: RCV000154773 ; RCV000201890 ; RCV000677338 ; RCV000725742 ; RCV000769448 ; RCV001315887 ; RCV002321639
• dbSNP Id: rs45451303
• ExAC: 14:23887513 G / A
• gnomAD v2: 14-23887513-G-A
• gnomAD v3: 14-23418304-G-A
• gnomAD v4: 14-23418304-G-A
• MyVariant Identifiers: chr14:g.23887513G>A (hg19) ; chr14:g.23418304G>A (hg38)
• PubMed: PMID:18506004 ; PMID:19412328

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23418304G>A , CM000676.2:g.23418304G>A	GRCh38
NC_000014.8:g.23887513G>A , CM000676.1:g.23887513G>A	GRCh37
NC_000014.7:g.22957353G>A	NCBI36
NG_007884.1:g.22358C>T , LRG_384:g.22358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4075C>T MANE Select	ENSP00000347507.3:p.Arg1359Cys
ENST00000355349.3:c.4075C>T	ENSP00000347507.3:p.Arg1359Cys
NM_000257.3:c.4075C>T	NP_000248.2:p.Arg1359Cys
XM_017021340.1:c.4075C>T	XP_016876829.1:p.Arg1359Cys
NM_000257.4:c.4075C>T MANE Select	NP_000248.2:p.Arg1359Cys