Canonical Allele Identifier: CA7923142

Gene: MYH11

Linked Data

• ClinVar Variation Id: 252513
• ClinVar RCV Id: RCV000238648 ; RCV001697687
• dbSNP Id: rs767563168
• ExAC: 16:15932126 C / G
• gnomAD v2: 16-15932126-C-G
• gnomAD v3: 16-15838269-C-G
• gnomAD v4: 16-15838269-C-G
• MyVariant Identifiers: chr16:g.15932126C>G (hg19) ; chr16:g.15838269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15838269C>G , CM000678.2:g.15838269C>G	GRCh38
NC_000016.9:g.15932126C>G , CM000678.1:g.15932126C>G	GRCh37
NC_000016.8:g.15839627C>G	NCBI36
NG_009299.1:g.23762G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.-17G>C MANE Select	ENSP00000300036.5:n.-17G>C
ENST00000452625.7:c.-17G>C MANE Plus Clinical	ENSP00000407821.2:n.-17G>C
ENST00000576790.7:c.-17G>C	ENSP00000458731.1:n.-17G>C
ENST00000652121.1:c.-17G>C	ENSP00000498314.1:n.-17G>C
ENST00000300036.5:c.-17G>C	ENSP00000300036.5:n.-17G>C
ENST00000396324.7:c.-17G>C	ENSP00000379616.3:n.-17G>C
ENST00000452625.6:c.-17G>C	ENSP00000407821.2:n.-17G>C
ENST00000571505.1:n.89G>C
ENST00000576790.6:c.-17G>C	ENSP00000458731.1:n.-17G>C
ENST00000616439.4:c.-17G>C	ENSP00000484924.1:n.-17G>C
NM_001040113.1:c.-17G>C	NP_001035202.1:n.-17G>C
NM_001040114.1:c.-17G>C	NP_001035203.1:n.-17G>C
NM_002474.2:c.-17G>C	NP_002465.1:n.-17G>C
NM_022844.2:c.-17G>C	NP_074035.1:n.-17G>C
XM_011522502.1:c.-17G>C	XP_011520804.1:n.-17G>C
XM_011522502.2:c.-17G>C	XP_011520804.1:n.-17G>C
XM_017023250.1:c.-17G>C	XP_016878739.1:n.-17G>C
NM_002474.3:c.-17G>C MANE Select	NP_002465.1:n.-17G>C
NM_001040113.2:c.-17G>C MANE Plus Clinical	NP_001035202.1:n.-17G>C
NM_001040114.2:c.-17G>C	NP_001035203.1:n.-17G>C
NM_022844.3:c.-17G>C	NP_074035.1:n.-17G>C