Canonical Allele Identifier: CA10209055

Gene: MYH9

Linked Data

• ClinVar Variation Id: 341494
• ClinVar RCV Id: RCV000368697 ; RCV000394413 ; RCV000787013 ; RCV001590995 ; RCV002523218
• dbSNP Id: rs368440234
• ExAC: 22:36681194 A / C
• gnomAD v2: 22-36681194-A-C
• gnomAD v3: 22-36285148-A-C
• gnomAD v4: 22-36285148-A-C
• MyVariant Identifiers: chr22:g.36681194A>C (hg19) ; chr22:g.36285148A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36285148A>C , CM000684.2:g.36285148A>C	GRCh38
NC_000022.10:g.36681194A>C , CM000684.1:g.36681194A>C	GRCh37
NC_000022.9:g.35011140A>C	NCBI36
NG_011884.2:g.107871T>G , LRG_567:g.107871T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.1889T>G
ENST00000685801.1:c.5519T>G	ENSP00000510688.1:p.Leu1840Arg
ENST00000690244.1:n.792T>G
ENST00000691109.1:n.5751T>G
ENST00000216181.11:c.5456T>G MANE Select	ENSP00000216181.6:p.Leu1819Arg
ENST00000216181.9:c.5456T>G	ENSP00000216181.5:p.Leu1819Arg
ENST00000475726.5:n.486T>G
ENST00000486218.1:n.463T>G
NM_002473.5:c.5456T>G , LRG_567t1:c.5456T>G	NP_002464.1:p.Leu1819Arg
XM_011530197.1:c.5456T>G	XP_011528499.1:p.Leu1819Arg
XM_011530197.2:c.5456T>G	XP_011528499.1:p.Leu1819Arg
XM_017028803.1:c.5456T>G	XP_016884292.1:p.Leu1819Arg
XM_017028804.1:c.5456T>G	XP_016884293.1:p.Leu1819Arg
XM_017028805.1:c.5456T>G	XP_016884294.1:p.Leu1819Arg
XM_017028806.1:c.5456T>G	XP_016884295.1:p.Leu1819Arg
NM_002473.6:c.5456T>G MANE Select	NP_002464.1:p.Leu1819Arg