Canonical Allele Identifier: CA10209689

Gene: MYH9

Linked Data

• ClinVar Variation Id: 341516
• ClinVar RCV Id: RCV000324164 ; RCV000360226 ; RCV001449723 ; RCV002057800
• dbSNP Id: rs137924205
• ExAC: 22:36691716 C / T
• gnomAD v2: 22-36691716-C-T
• gnomAD v3: 22-36295670-C-T
• gnomAD v4: 22-36295670-C-T
• COSMIC: COSM325895
• MyVariant Identifiers: chr22:g.36691716C>T (hg19) ; chr22:g.36295670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36295670C>T , CM000684.2:g.36295670C>T	GRCh38
NC_000022.10:g.36691716C>T , CM000684.1:g.36691716C>T	GRCh37
NC_000022.9:g.35021662C>T	NCBI36
NG_011884.2:g.97349G>A , LRG_567:g.97349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.3383G>A	ENSP00000510688.1:p.Arg1128Gln
ENST00000691109.1:n.3615G>A
ENST00000216181.11:c.3320G>A MANE Select	ENSP00000216181.6:p.Arg1107Gln
ENST00000216181.9:c.3320G>A	ENSP00000216181.5:p.Arg1107Gln
ENST00000459960.1:n.529G>A
NM_002473.5:c.3320G>A , LRG_567t1:c.3320G>A	NP_002464.1:p.Arg1107Gln
XM_011530197.1:c.3320G>A	XP_011528499.1:p.Arg1107Gln
XM_011530197.2:c.3320G>A	XP_011528499.1:p.Arg1107Gln
XM_017028803.1:c.3320G>A	XP_016884292.1:p.Arg1107Gln
XM_017028804.1:c.3320G>A	XP_016884293.1:p.Arg1107Gln
XM_017028805.1:c.3320G>A	XP_016884294.1:p.Arg1107Gln
XM_017028806.1:c.3320G>A	XP_016884295.1:p.Arg1107Gln
NM_002473.6:c.3320G>A MANE Select	NP_002464.1:p.Arg1107Gln