Canonical Allele Identifier: CA134305

Gene: MYH6

Linked Data

• ClinVar Variation Id: 44475
• ClinVar RCV Id: RCV000037466 ; RCV000234739 ; RCV000244702 ; RCV000770447 ; RCV001529419 ; RCV002477093
• dbSNP Id: rs145274612
• ExAC: 14:23862710 C / T
• gnomAD v2: 14-23862710-C-T
• gnomAD v3: 14-23393501-C-T
• gnomAD v4: 14-23393501-C-T
• MyVariant Identifiers: chr14:g.23862710C>T (hg19) ; chr14:g.23393501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23393501C>T , CM000676.2:g.23393501C>T	GRCh38
NC_000014.8:g.23862710C>T , CM000676.1:g.23862710C>T	GRCh37
NC_000014.7:g.22932550C>T	NCBI36
NG_023444.1:g.19777G>A , LRG_389:g.19777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2946G>A MANE Select	ENSP00000386041.3:p.Glu982=
ENST00000356287.3:c.2946G>A	ENSP00000348634.3:p.Glu982=
ENST00000405093.7:c.2946G>A	ENSP00000386041.3:p.Glu982=
NM_002471.3:c.2946G>A , LRG_389t1:c.2946G>A	NP_002462.2:p.Glu982=
NM_002471.4:c.2946G>A MANE Select	NP_002462.2:p.Glu982=