Canonical Allele Identifier: CA7922454
Gene: MYH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773851
ClinVar RCV Id: RCV003528643
dbSNP Id: rs760656490

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15750190C>T , CM000678.2:g.15750190C>T GRCh38
NC_000016.9:g.15844047C>T , CM000678.1:g.15844047C>T GRCh37
NC_000016.8:g.15751548C>T NCBI36
NG_009299.1:g.111841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300036.6:c.2006G>A MANE Select ENSP00000300036.5:p.Arg669His
ENST00000452625.7:c.2027G>A MANE Plus Clinical ENSP00000407821.2:p.Arg676His
ENST00000576790.7:c.2006G>A ENSP00000458731.1:p.Arg669His
ENST00000652121.1:c.*189G>A ENSP00000498314.1:n.*189G>A
ENST00000300036.5:c.2006G>A ENSP00000300036.5:p.Arg669His
ENST00000396324.7:c.2027G>A ENSP00000379616.3:p.Arg676His
ENST00000452625.6:c.2027G>A ENSP00000407821.2:p.Arg676His
ENST00000570785.1:n.2428G>A
ENST00000576790.6:c.2006G>A ENSP00000458731.1:p.Arg669His
ENST00000616439.4:c.2027G>A ENSP00000484924.1:p.Arg676His
NM_001040113.1:c.2027G>A NP_001035202.1:p.Arg676His
NM_001040114.1:c.2027G>A NP_001035203.1:p.Arg676His
NM_002474.2:c.2006G>A NP_002465.1:p.Arg669His
NM_022844.2:c.2006G>A NP_074035.1:p.Arg669His
XM_011522502.1:c.2006G>A XP_011520804.1:p.Arg669His
XM_011522502.2:c.2006G>A XP_011520804.1:p.Arg669His
XM_017023250.1:c.2027G>A XP_016878739.1:p.Arg676His
NM_002474.3:c.2006G>A MANE Select NP_002465.1:p.Arg669His
NM_001040113.2:c.2027G>A MANE Plus Clinical NP_001035202.1:p.Arg676His
NM_001040114.2:c.2027G>A NP_001035203.1:p.Arg676His
NM_022844.3:c.2006G>A NP_074035.1:p.Arg669His