Canonical Allele Identifier: CA389047877
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 926111
ClinVar RCV Id: RCV001188502
dbSNP Id: rs1892625736
MyVariant Identifiers: chr14:g.23894004T>A (hg19) chr14:g.23424795T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424795T>A , CM000676.2:g.23424795T>A GRCh38
NC_000014.8:g.23894004T>A , CM000676.1:g.23894004T>A GRCh37
NC_000014.7:g.22963844T>A NCBI36
NG_007884.1:g.15867A>T , LRG_384:g.15867A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2653A>T MANE Select ENSP00000347507.3:p.Asn885Tyr
ENST00000355349.3:c.2653A>T ENSP00000347507.3:p.Asn885Tyr
NM_000257.3:c.2653A>T NP_000248.2:p.Asn885Tyr
XR_245686.3:n.2759A>T
XM_017021340.1:c.2653A>T XP_016876829.1:p.Asn885Tyr
NM_000257.4:c.2653A>T MANE Select NP_000248.2:p.Asn885Tyr
Search 100 bp 5'
Search 100 bp 3'