Canonical Allele Identifier: CA389051106
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329400
ClinVar RCV Id: RCV001799443 RCV002359259 RCV003586315
dbSNP Id: rs1422611896
MyVariant Identifiers: chr14:g.23898479C>T (hg19) chr14:g.23429270C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429270C>T , CM000676.2:g.23429270C>T GRCh38
NC_000014.8:g.23898479C>T , CM000676.1:g.23898479C>T GRCh37
NC_000014.7:g.22968319C>T NCBI36
NG_007884.1:g.11392G>A , LRG_384:g.11392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1216G>A MANE Select ENSP00000347507.3:p.Val406Met
ENST00000355349.3:c.1216G>A ENSP00000347507.3:p.Val406Met
NM_000257.3:c.1216G>A NP_000248.2:p.Val406Met
XR_245686.3:n.1322G>A
XM_017021340.1:c.1216G>A XP_016876829.1:p.Val406Met
NM_000257.4:c.1216G>A MANE Select NP_000248.2:p.Val406Met
Search 100 bp 5'
Search 100 bp 3'