Canonical Allele Identifier: CA389050740
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1435407
ClinVar RCV Id: RCV002001826
dbSNP Id: rs776583355
MyVariant Identifiers: chr14:g.23898188G>T (hg19) chr14:g.23428979G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428979G>T , CM000676.2:g.23428979G>T GRCh38
NC_000014.8:g.23898188G>T , CM000676.1:g.23898188G>T GRCh37
NC_000014.7:g.22968028G>T NCBI36
NG_007884.1:g.11683C>A , LRG_384:g.11683C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1383C>A MANE Select ENSP00000347507.3:p.Asp461Glu
ENST00000355349.3:c.1383C>A ENSP00000347507.3:p.Asp461Glu
NM_000257.3:c.1383C>A NP_000248.2:p.Asp461Glu
XR_245686.3:n.1489C>A
XM_017021340.1:c.1383C>A XP_016876829.1:p.Asp461Glu
NM_000257.4:c.1383C>A MANE Select NP_000248.2:p.Asp461Glu
Search 100 bp 5'
Search 100 bp 3'