Canonical Allele Identifier: CA7114630

Gene: MYH6

Linked Data

• ClinVar Variation Id: 228895
• ClinVar RCV Id: RCV000219757 ; RCV000468191 ; RCV004532760 ; RCV001573798 ; RCV002338682 ; RCV002485392
• dbSNP Id: rs780726611
• ExAC: 14:23855655 G / A
• gnomAD v2: 14-23855655-G-A
• gnomAD v3: 14-23386446-G-A
• gnomAD v4: 14-23386446-G-A
• MyVariant Identifiers: chr14:g.23855655G>A (hg19) ; chr14:g.23386446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23386446G>A , CM000676.2:g.23386446G>A	GRCh38
NC_000014.8:g.23855655G>A , CM000676.1:g.23855655G>A	GRCh37
NC_000014.7:g.22925495G>A	NCBI36
NG_023444.1:g.26832C>T , LRG_389:g.26832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.4828C>T MANE Select	ENSP00000386041.3:p.Arg1610Cys
ENST00000356287.3:c.4828C>T	ENSP00000348634.3:p.Arg1610Cys
ENST00000405093.7:c.4828C>T	ENSP00000386041.3:p.Arg1610Cys
NM_002471.3:c.4828C>T , LRG_389t1:c.4828C>T	NP_002462.2:p.Arg1610Cys
NM_002471.4:c.4828C>T MANE Select	NP_002462.2:p.Arg1610Cys