Canonical Allele Identifier: CA7116274

Gene: MYH6

Linked Data

• ClinVar Variation Id: 537970
• ClinVar RCV Id: RCV000647076 ; RCV000770462 ; RCV002499103 ; RCV003162939
• dbSNP Id: rs771786844
• ExAC: 14:23876365 C / T
• gnomAD v2: 14-23876365-C-T
• gnomAD v3: 14-23407156-C-T
• gnomAD v4: 14-23407156-C-T
• MyVariant Identifiers: chr14:g.23876365C>T (hg19) ; chr14:g.23407156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23407156C>T , CM000676.2:g.23407156C>T	GRCh38
NC_000014.8:g.23876365C>T , CM000676.1:g.23876365C>T	GRCh37
NC_000014.7:g.22946205C>T	NCBI36
NG_023444.1:g.6122G>A , LRG_389:g.6122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.68G>A MANE Select	ENSP00000386041.3:p.Arg23His
ENST00000557461.2:n.135G>A
ENST00000356287.3:c.68G>A	ENSP00000348634.3:p.Arg23His
ENST00000405093.7:c.68G>A	ENSP00000386041.3:p.Arg23His
ENST00000557461.1:n.122G>A
NM_002471.3:c.68G>A , LRG_389t1:c.68G>A	NP_002462.2:p.Arg23His
NM_002471.4:c.68G>A MANE Select	NP_002462.2:p.Arg23His