Canonical Allele Identifier: CA016513
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177692
ClinVar RCV Id: RCV000158746 RCV000706637 RCV002354363
dbSNP Id: rs727504283
COSMIC: COSM6007968
MyVariant Identifiers: chr14:g.23901013G>A (hg19) chr14:g.23431804G>A (hg38)
PubMed: PMID:23074333
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431804G>A , CM000676.2:g.23431804G>A GRCh38
NC_000014.8:g.23901013G>A , CM000676.1:g.23901013G>A GRCh37
NC_000014.7:g.22970853G>A NCBI36
NG_007884.1:g.8858C>T , LRG_384:g.8858C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.596C>T MANE Select ENSP00000347507.3:p.Ala199Val
ENST00000355349.3:c.596C>T ENSP00000347507.3:p.Ala199Val
NM_000257.3:c.596C>T NP_000248.2:p.Ala199Val
XR_245686.3:n.702C>T
XM_017021340.1:c.596C>T XP_016876829.1:p.Ala199Val
NM_000257.4:c.596C>T MANE Select NP_000248.2:p.Ala199Val
Search 100 bp 5'
Search 100 bp 3'