Canonical Allele Identifier: CA015861

Gene: MYH7

Linked Data

• ClinVar Variation Id: 177846
• ClinVar RCV Id: RCV000154483 ; RCV000172890 ; RCV000208237 ; RCV000577993 ; RCV000578027 ; RCV000578112 ; RCV000464078 ; RCV000724585 ; RCV000769433 ; RCV002483337 ; RCV002345494 ; RCV003320110
• dbSNP Id: rs727504355
• ExAC: 14:23884476 C / T
• gnomAD v2: 14-23884476-C-T
• gnomAD v3: 14-23415267-C-T
• gnomAD v4: 14-23415267-C-T
• COSMIC: COSM954739
• MyVariant Identifiers: chr14:g.23884476C>T (hg19) ; chr14:g.23415267C>T (hg38)
• PubMed: PMID:22958901 ; PMID:24111713 ; PMID:24793961 ; PMID:25611685 ; PMID:27247418 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415267C>T , CM000676.2:g.23415267C>T	GRCh38
NC_000014.8:g.23884476C>T , CM000676.1:g.23884476C>T	GRCh37
NC_000014.7:g.22954316C>T	NCBI36
NG_007884.1:g.25395G>A , LRG_384:g.25395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5287G>A MANE Select	ENSP00000347507.3:p.Ala1763Thr
ENST00000355349.3:c.5287G>A	ENSP00000347507.3:p.Ala1763Thr
NM_000257.3:c.5287G>A	NP_000248.2:p.Ala1763Thr
XM_017021340.1:c.5287G>A	XP_016876829.1:p.Ala1763Thr
NM_000257.4:c.5287G>A MANE Select	NP_000248.2:p.Ala1763Thr