Canonical Allele Identifier: CA134302

Gene: MYH6

Linked Data

• ClinVar Variation Id: 44474
• ClinVar RCV Id: RCV000037465 ; RCV000252583 ; RCV000467043 ; RCV000770460 ; RCV000765154 ; RCV000761867 ; RCV001256736 ; RCV002470732
• dbSNP Id: rs140596256
• ExAC: 14:23874889 C / T
• gnomAD v2: 14-23874889-C-T
• gnomAD v3: 14-23405680-C-T
• gnomAD v4: 14-23405680-C-T
• COSMIC: COSM3885896
• MyVariant Identifiers: chr14:g.23874889C>T (hg19) ; chr14:g.23405680C>T (hg38)
• PubMed: PMID:20656787 ; PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23405680C>T , CM000676.2:g.23405680C>T	GRCh38
NC_000014.8:g.23874889C>T , CM000676.1:g.23874889C>T	GRCh37
NC_000014.7:g.22944729C>T	NCBI36
NG_023444.1:g.7598G>A , LRG_389:g.7598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.292G>A MANE Select	ENSP00000386041.3:p.Glu98Lys
ENST00000557461.2:n.359G>A
ENST00000356287.3:c.292G>A	ENSP00000348634.3:p.Glu98Lys
ENST00000405093.7:c.292G>A	ENSP00000386041.3:p.Glu98Lys
ENST00000557461.1:n.346G>A
NM_002471.3:c.292G>A , LRG_389t1:c.292G>A	NP_002462.2:p.Glu98Lys
NM_002471.4:c.292G>A MANE Select	NP_002462.2:p.Glu98Lys