Canonical Allele Identifier: CA134298

Gene: MYH6

Linked Data

• ClinVar Variation Id: 44472
• ClinVar RCV Id: RCV001719743 ; RCV002477092
• dbSNP Id: rs144907522
• ExAC: 14:23862913 C / A
• gnomAD v2: 14-23862913-C-A
• gnomAD v3: 14-23393704-C-A
• gnomAD v4: 14-23393704-C-A
• MyVariant Identifiers: chr14:g.23862913C>A (hg19) ; chr14:g.23393704C>A (hg38)
• PubMed: PMID:23861362 ; PMID:27789736

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23393704C>A , CM000676.2:g.23393704C>A	GRCh38
NC_000014.8:g.23862913C>A , CM000676.1:g.23862913C>A	GRCh37
NC_000014.7:g.22932753C>A	NCBI36
NG_023444.1:g.19574G>T , LRG_389:g.19574G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405093.9:c.2890G>T MANE Select	ENSP00000386041.3:p.Ala964Ser
ENST00000356287.3:c.2890G>T	ENSP00000348634.3:p.Ala964Ser
ENST00000405093.7:c.2890G>T	ENSP00000386041.3:p.Ala964Ser
NM_002471.3:c.2890G>T , LRG_389t1:c.2890G>T	NP_002462.2:p.Ala964Ser
NM_002471.4:c.2890G>T MANE Select	NP_002462.2:p.Ala964Ser