Canonical Allele Identifier: CA014503

Gene: MYH7

Linked Data

• ClinVar Variation Id: 42993
• ClinVar RCV Id: RCV003149622
• dbSNP Id: rs397516202
• gnomAD v2: 14-23887453-C-T
• gnomAD v3: 14-23418244-C-T
• gnomAD v4: 14-23418244-C-T
• MyVariant Identifiers: chr14:g.23887453C>T (hg19) ; chr14:g.23418244C>T (hg38)
• PubMed: PMID:11861413 ; PMID:12707239 ; PMID:16918501 ; PMID:21310275 ; PMID:23283745

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23418244C>T , CM000676.2:g.23418244C>T	GRCh38
NC_000014.8:g.23887453C>T , CM000676.1:g.23887453C>T	GRCh37
NC_000014.7:g.22957293C>T	NCBI36
NG_007884.1:g.22418G>A , LRG_384:g.22418G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.4135G>A MANE Select	ENSP00000347507.3:p.Ala1379Thr
ENST00000355349.3:c.4135G>A	ENSP00000347507.3:p.Ala1379Thr
NM_000257.3:c.4135G>A	NP_000248.2:p.Ala1379Thr
XM_017021340.1:c.4135G>A	XP_016876829.1:p.Ala1379Thr
NM_000257.4:c.4135G>A MANE Select	NP_000248.2:p.Ala1379Thr