Canonical Allele Identifier: CA134301

Gene: MYH6

Linked Data

• ClinVar Variation Id: 44473
• ClinVar RCV Id: RCV000037464 ; RCV000230824 ; RCV000248019 ; RCV000577962 ; RCV000590639 ; RCV000578015 ; RCV000770448
• dbSNP Id: rs28730772
• ExAC: 14:23862870 C / T
• gnomAD v2: 14-23862870-C-T
• gnomAD v3: 14-23393661-C-T
• gnomAD v4: 14-23393661-C-T
• MyVariant Identifiers: chr14:g.23862870C>T (hg19) ; chr14:g.23393661C>T (hg38)
• PubMed: PMID:23396983 ; PMID:24503780 ; PMID:25351510 ; PMID:26656175

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23393661C>T , CM000676.2:g.23393661C>T	GRCh38
NC_000014.8:g.23862870C>T , CM000676.1:g.23862870C>T	GRCh37
NC_000014.7:g.22932710C>T	NCBI36
NG_023444.1:g.19617G>A , LRG_389:g.19617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2928+5G>A MANE Select	ENSP00000386041.3:n.2928+5G>A
ENST00000356287.3:c.2928+5G>A	ENSP00000348634.3:n.2928+5G>A
ENST00000405093.7:c.2928+5G>A	ENSP00000386041.3:n.2928+5G>A
NM_002471.3:c.2928+5G>A , LRG_389t1:c.2928+5G>A	NP_002462.2:n.2928+5G>A
NM_002471.4:c.2928+5G>A MANE Select	NP_002462.2:n.2928+5G>A