Canonical Allele Identifier: CA238407

Gene: MYH6

Linked Data

• ClinVar Variation Id: 192122
• ClinVar RCV Id: RCV000172564 ; RCV000208173 ; RCV000821750 ; RCV002433759 ; RCV003318361
• dbSNP Id: rs200153625
• ExAC: 14:23863371 G / A
• gnomAD v2: 14-23863371-G-A
• gnomAD v3: 14-23394162-G-A
• gnomAD v4: 14-23394162-G-A
• MyVariant Identifiers: chr14:g.23863371G>A (hg19) ; chr14:g.23394162G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23394162G>A , CM000676.2:g.23394162G>A	GRCh38
NC_000014.8:g.23863371G>A , CM000676.1:g.23863371G>A	GRCh37
NC_000014.7:g.22933211G>A	NCBI36
NG_023444.1:g.19116C>T , LRG_389:g.19116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2591C>T MANE Select	ENSP00000386041.3:p.Thr864Met
ENST00000356287.3:c.2591C>T	ENSP00000348634.3:p.Thr864Met
ENST00000405093.7:c.2591C>T	ENSP00000386041.3:p.Thr864Met
NM_002471.3:c.2591C>T , LRG_389t1:c.2591C>T	NP_002462.2:p.Thr864Met
NM_002471.4:c.2591C>T MANE Select	NP_002462.2:p.Thr864Met