Canonical Allele Identifier: CA485627101
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1101018
ClinVar RCV Id: RCV001423807
dbSNP Id: rs1893033359
MyVariant Identifiers: chr14:g.23902756C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433547C>T , CM000676.2:g.23433547C>T GRCh38
NC_000014.8:g.23902756C>T , CM000676.1:g.23902756C>T GRCh37
NC_000014.7:g.22972596C>T NCBI36
NG_007884.1:g.7115G>A , LRG_384:g.7115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.186G>A MANE Select ENSP00000347507.3:p.Glu62=
ENST00000355349.3:c.186G>A ENSP00000347507.3:p.Glu62=
NM_000257.3:c.186G>A NP_000248.2:p.Glu62=
XR_245686.3:n.292G>A
XM_017021340.1:c.186G>A XP_016876829.1:p.Glu62=
NM_000257.4:c.186G>A MANE Select NP_000248.2:p.Glu62=
Search 100 bp 5'
Search 100 bp 3'