Canonical Allele Identifier: CA346483

Gene: MYH6

Linked Data

• ClinVar Variation Id: 180424
• ClinVar RCV Id: RCV000157338 ; RCV000463802 ; RCV001545949 ; RCV002492608 ; RCV002362841 ; RCV003318358
• dbSNP Id: rs368588052
• ExAC: 14:23858687 G / A
• gnomAD v2: 14-23858687-G-A
• gnomAD v3: 14-23389478-G-A
• gnomAD v4: 14-23389478-G-A
• COSMIC: COSM371738
• MyVariant Identifiers: chr14:g.23858687G>A (hg19) ; chr14:g.23389478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23389478G>A , CM000676.2:g.23389478G>A	GRCh38
NC_000014.8:g.23858687G>A , CM000676.1:g.23858687G>A	GRCh37
NC_000014.7:g.22928527G>A	NCBI36
NG_023444.1:g.23800C>T , LRG_389:g.23800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.3893C>T MANE Select	ENSP00000386041.3:p.Ala1298Val
ENST00000356287.3:c.3893C>T	ENSP00000348634.3:p.Ala1298Val
ENST00000405093.7:c.3893C>T	ENSP00000386041.3:p.Ala1298Val
NM_002471.3:c.3893C>T , LRG_389t1:c.3893C>T	NP_002462.2:p.Ala1298Val
NM_002471.4:c.3893C>T MANE Select	NP_002462.2:p.Ala1298Val