Canonical Allele Identifier: CA016872
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43108
ClinVar RCV Id: RCV000036006
dbSNP Id: rs397516270
MyVariant Identifiers: chr14:g.23900170C>T (hg19) chr14:g.23430961C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430961C>T , CM000676.2:g.23430961C>T GRCh38
NC_000014.8:g.23900170C>T , CM000676.1:g.23900170C>T GRCh37
NC_000014.7:g.22970010C>T NCBI36
NG_007884.1:g.9701G>A , LRG_384:g.9701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.835G>A MANE Select ENSP00000347507.3:p.Ala279Thr
ENST00000355349.3:c.835G>A ENSP00000347507.3:p.Ala279Thr
NM_000257.3:c.835G>A NP_000248.2:p.Ala279Thr
XR_245686.3:n.941G>A
XM_017021340.1:c.835G>A XP_016876829.1:p.Ala279Thr
NM_000257.4:c.835G>A MANE Select NP_000248.2:p.Ala279Thr
Search 100 bp 5'
Search 100 bp 3'