Canonical Allele Identifier: CA016893
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 66081
ClinVar RCV Id: RCV000056316 RCV002054899
dbSNP Id: rs397515482
MyVariant Identifiers: chr14:g.23900158A>C (hg19) chr14:g.23430949A>C (hg38)
PubMed: PMID:21127202
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430949A>C , CM000676.2:g.23430949A>C GRCh38
NC_000014.8:g.23900158A>C , CM000676.1:g.23900158A>C GRCh37
NC_000014.7:g.22969998A>C NCBI36
NG_007884.1:g.9713T>G , LRG_384:g.9713T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.847T>G MANE Select ENSP00000347507.3:p.Tyr283Asp
ENST00000355349.3:c.847T>G ENSP00000347507.3:p.Tyr283Asp
NM_000257.3:c.847T>G NP_000248.2:p.Tyr283Asp
XR_245686.3:n.953T>G
XM_017021340.1:c.847T>G XP_016876829.1:p.Tyr283Asp
NM_000257.4:c.847T>G MANE Select NP_000248.2:p.Tyr283Asp
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