Canonical Allele Identifier: CA7922441

Gene: MYH11

Linked Data

• ClinVar Variation Id: 2878414
• ClinVar RCV Id: RCV003628809
• dbSNP Id: rs374960962
• ExAC: 16:15843983 G / A
• gnomAD v2: 16-15843983-G-A
• gnomAD v3: 16-15750126-G-A
• gnomAD v4: 16-15750126-G-A
• MyVariant Identifiers: chr16:g.15843983G>A (hg19) ; chr16:g.15750126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15750126G>A , CM000678.2:g.15750126G>A	GRCh38
NC_000016.9:g.15843983G>A , CM000678.1:g.15843983G>A	GRCh37
NC_000016.8:g.15751484G>A	NCBI36
NG_009299.1:g.111905C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000300036.6:c.2058+12C>T MANE Select	ENSP00000300036.5:n.2058+12C>T
ENST00000452625.7:c.2079+12C>T MANE Plus Clinical	ENSP00000407821.2:n.2079+12C>T
ENST00000576790.7:c.2058+12C>T	ENSP00000458731.1:n.2058+12C>T
ENST00000652121.1:c.*241+12C>T	ENSP00000498314.1:n.*241+12C>T
ENST00000300036.5:c.2058+12C>T	ENSP00000300036.5:n.2058+12C>T
ENST00000396324.7:c.2079+12C>T	ENSP00000379616.3:n.2079+12C>T
ENST00000452625.6:c.2079+12C>T	ENSP00000407821.2:n.2079+12C>T
ENST00000570785.1:n.2492C>T
ENST00000576790.6:c.2058+12C>T	ENSP00000458731.1:n.2058+12C>T
ENST00000616439.4:c.2079+12C>T	ENSP00000484924.1:n.2079+12C>T
NM_001040113.1:c.2079+12C>T	NP_001035202.1:n.2079+12C>T
NM_001040114.1:c.2079+12C>T	NP_001035203.1:n.2079+12C>T
NM_002474.2:c.2058+12C>T	NP_002465.1:n.2058+12C>T
NM_022844.2:c.2058+12C>T	NP_074035.1:n.2058+12C>T
XM_011522502.1:c.2058+12C>T	XP_011520804.1:n.2058+12C>T
XM_011522502.2:c.2058+12C>T	XP_011520804.1:n.2058+12C>T
XM_017023250.1:c.2079+12C>T	XP_016878739.1:n.2079+12C>T
NM_002474.3:c.2058+12C>T MANE Select	NP_002465.1:n.2058+12C>T
NM_001040113.2:c.2079+12C>T MANE Plus Clinical	NP_001035202.1:n.2079+12C>T
NM_001040114.2:c.2079+12C>T	NP_001035203.1:n.2079+12C>T
NM_022844.3:c.2058+12C>T	NP_074035.1:n.2058+12C>T