Canonical Allele Identifier: CA7115128

Gene: MYH6

Linked Data

• ClinVar Variation Id: 407151
• ClinVar RCV Id: RCV000473507 ; RCV000607798 ; RCV001595007 ; RCV002489034 ; RCV002451098
• dbSNP Id: rs372794975
• ExAC: 14:23859400 C / G
• gnomAD v2: 14-23859400-C-G
• gnomAD v3: 14-23390191-C-G
• gnomAD v4: 14-23390191-C-G
• MyVariant Identifiers: chr14:g.23859400C>G (hg19) ; chr14:g.23390191C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23390191C>G , CM000676.2:g.23390191C>G	GRCh38
NC_000014.8:g.23859400C>G , CM000676.1:g.23859400C>G	GRCh37
NC_000014.7:g.22929240C>G	NCBI36
NG_023444.1:g.23087G>C , LRG_389:g.23087G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.3598G>C MANE Select	ENSP00000386041.3:p.Asp1200His
ENST00000356287.3:c.3598G>C	ENSP00000348634.3:p.Asp1200His
ENST00000405093.7:c.3598G>C	ENSP00000386041.3:p.Asp1200His
NM_002471.3:c.3598G>C , LRG_389t1:c.3598G>C	NP_002462.2:p.Asp1200His
NM_002471.4:c.3598G>C MANE Select	NP_002462.2:p.Asp1200His