Canonical Allele Identifier: CA237363

Gene: MYH6

Linked Data

• ClinVar Variation Id: 191718
• ClinVar RCV Id: RCV000172030 ; RCV000208528 ; RCV001170243 ; RCV001364234 ; RCV002453597 ; RCV002492720
• dbSNP Id: rs369274077
• ExAC: 14:23863387 C / A
• gnomAD v2: 14-23863387-C-A
• gnomAD v3: 14-23394178-C-A
• gnomAD v4: 14-23394178-C-A
• MyVariant Identifiers: chr14:g.23863387C>A (hg19) ; chr14:g.23394178C>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23394178C>A , CM000676.2:g.23394178C>A	GRCh38
NC_000014.8:g.23863387C>A , CM000676.1:g.23863387C>A	GRCh37
NC_000014.7:g.22933227C>A	NCBI36
NG_023444.1:g.19100G>T , LRG_389:g.19100G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2575G>T MANE Select	ENSP00000386041.3:p.Gly859Trp
ENST00000356287.3:c.2575G>T	ENSP00000348634.3:p.Gly859Trp
ENST00000405093.7:c.2575G>T	ENSP00000386041.3:p.Gly859Trp
NM_002471.3:c.2575G>T , LRG_389t1:c.2575G>T	NP_002462.2:p.Gly859Trp
NM_002471.4:c.2575G>T MANE Select	NP_002462.2:p.Gly859Trp