Canonical Allele Identifier: CA7114675

Gene: MYH6

Linked Data

• ClinVar Variation Id: 239176
• ClinVar RCV Id: RCV000232303 ; RCV000599110 ; RCV002338721
• dbSNP Id: rs572175190
• ExAC: 14:23855835 G / T
• gnomAD v2: 14-23855835-G-T
• gnomAD v3: 14-23386626-G-T
• gnomAD v4: 14-23386626-G-T
• MyVariant Identifiers: chr14:g.23855835G>T (hg19) ; chr14:g.23386626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23386626G>T , CM000676.2:g.23386626G>T	GRCh38
NC_000014.8:g.23855835G>T , CM000676.1:g.23855835G>T	GRCh37
NC_000014.7:g.22925675G>T	NCBI36
NG_023444.1:g.26652C>A , LRG_389:g.26652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.4651-3C>A MANE Select	ENSP00000386041.3:n.4651-3C>A
ENST00000356287.3:c.4651-3C>A	ENSP00000348634.3:n.4651-3C>A
ENST00000405093.7:c.4651-3C>A	ENSP00000386041.3:n.4651-3C>A
NM_002471.3:c.4651-3C>A , LRG_389t1:c.4651-3C>A	NP_002462.2:n.4651-3C>A
NM_002471.4:c.4651-3C>A MANE Select	NP_002462.2:n.4651-3C>A