Canonical Allele Identifier: CA7116220

Gene: MYH6

Linked Data

• ClinVar Variation Id: 505879
• ClinVar RCV Id: RCV000600539 ; RCV002291678 ; RCV002448846 ; RCV002483680
• dbSNP Id: rs772216708
• ExAC: 14:23874948 T / C
• gnomAD v2: 14-23874948-T-C
• gnomAD v3: 14-23405739-T-C
• gnomAD v4: 14-23405739-T-C
• MyVariant Identifiers: chr14:g.23874948T>C (hg19) ; chr14:g.23405739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23405739T>C , CM000676.2:g.23405739T>C	GRCh38
NC_000014.8:g.23874948T>C , CM000676.1:g.23874948T>C	GRCh37
NC_000014.7:g.22944788T>C	NCBI36
NG_023444.1:g.7539A>G , LRG_389:g.7539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.233A>G MANE Select	ENSP00000386041.3:p.Gln78Arg
ENST00000557461.2:n.300A>G
ENST00000356287.3:c.233A>G	ENSP00000348634.3:p.Gln78Arg
ENST00000405093.7:c.233A>G	ENSP00000386041.3:p.Gln78Arg
ENST00000557461.1:n.287A>G
NM_002471.3:c.233A>G , LRG_389t1:c.233A>G	NP_002462.2:p.Gln78Arg
NM_002471.4:c.233A>G MANE Select	NP_002462.2:p.Gln78Arg