Canonical Allele Identifier: CA276011

Gene: MYH7

Linked Data

• ClinVar Variation Id: 208597
• ClinVar RCV Id: RCV000190606 ; RCV000211873 ; RCV000223729 ; RCV001179058 ; RCV001852531 ; RCV002354537
• dbSNP Id: rs797045097
• gnomAD v2: 14-23887557-C-T
• gnomAD v3: 14-23418348-C-T
• gnomAD v4: 14-23418348-C-T
• MyVariant Identifiers: chr14:g.23887557C>T (hg19) ; chr14:g.23418348C>T (hg38)
• PubMed: PMID:24093860 ; PMID:24793961 ; PMID:25558701 ; PMID:27247418

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23418348C>T , CM000676.2:g.23418348C>T	GRCh38
NC_000014.8:g.23887557C>T , CM000676.1:g.23887557C>T	GRCh37
NC_000014.7:g.22957397C>T	NCBI36
NG_007884.1:g.22314G>A , LRG_384:g.22314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4031G>A MANE Select	ENSP00000347507.3:p.Arg1344Gln
ENST00000355349.3:c.4031G>A	ENSP00000347507.3:p.Arg1344Gln
NM_000257.3:c.4031G>A	NP_000248.2:p.Arg1344Gln
XM_017021340.1:c.4031G>A	XP_016876829.1:p.Arg1344Gln
NM_000257.4:c.4031G>A MANE Select	NP_000248.2:p.Arg1344Gln