Canonical Allele Identifier: CA411372893

Gene: MYH9

Linked Data

• ClinVar Variation Id: 441002
• ClinVar RCV Id: RCV000509305
• dbSNP Id: rs1436597250
• gnomAD v2: 22-36680478-G-A
• gnomAD v4: 22-36284432-G-A
• MyVariant Identifiers: chr22:g.36680478G>A (hg19) ; chr22:g.36284432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36284432G>A , CM000684.2:g.36284432G>A	GRCh38
NC_000022.10:g.36680478G>A , CM000684.1:g.36680478G>A	GRCh37
NC_000022.9:g.35010424G>A	NCBI36
NG_011884.2:g.108587C>T , LRG_567:g.108587C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000685708.1:n.1996C>T
ENST00000685801.1:c.5626C>T	ENSP00000510688.1:p.Arg1876Trp
ENST00000690244.1:n.899C>T
ENST00000691109.1:n.5858C>T
ENST00000216181.11:c.5563C>T MANE Select	ENSP00000216181.6:p.Arg1855Trp
ENST00000216181.9:c.5563C>T	ENSP00000216181.5:p.Arg1855Trp
ENST00000475726.5:n.593C>T
ENST00000486218.1:n.570C>T
NM_002473.5:c.5563C>T , LRG_567t1:c.5563C>T	NP_002464.1:p.Arg1855Trp
XM_011530197.1:c.5563C>T	XP_011528499.1:p.Arg1855Trp
XM_011530197.2:c.5563C>T	XP_011528499.1:p.Arg1855Trp
XM_017028803.1:c.5563C>T	XP_016884292.1:p.Arg1855Trp
XM_017028804.1:c.5563C>T	XP_016884293.1:p.Arg1855Trp
XM_017028805.1:c.5563C>T	XP_016884294.1:p.Arg1855Trp
XM_017028806.1:c.5563C>T	XP_016884295.1:p.Arg1855Trp
NM_002473.6:c.5563C>T MANE Select	NP_002464.1:p.Arg1855Trp