Canonical Allele Identifier: CA323590385

Gene: MYH9

Linked Data

• ClinVar Variation Id: 523453
• ClinVar RCV Id: RCV000626824 ; RCV000852126
• dbSNP Id: rs867593888
• MyVariant Identifiers: chr22:g.36688105T>C (hg19) ; chr22:g.36292059T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36292059T>C , CM000684.2:g.36292059T>C	GRCh38
NC_000022.10:g.36688105T>C , CM000684.1:g.36688105T>C	GRCh37
NC_000022.9:g.35018051T>C	NCBI36
NG_011884.2:g.100960A>G , LRG_567:g.100960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.4334A>G	ENSP00000510688.1:p.Asp1445Gly
ENST00000691109.1:n.4566A>G
ENST00000216181.11:c.4271A>G MANE Select	ENSP00000216181.6:p.Asp1424Gly
ENST00000216181.9:c.4271A>G	ENSP00000216181.5:p.Asp1424Gly
NM_002473.5:c.4271A>G , LRG_567t1:c.4271A>G	NP_002464.1:p.Asp1424Gly
XM_011530197.1:c.4271A>G	XP_011528499.1:p.Asp1424Gly
XM_011530197.2:c.4271A>G	XP_011528499.1:p.Asp1424Gly
XM_017028803.1:c.4271A>G	XP_016884292.1:p.Asp1424Gly
XM_017028804.1:c.4271A>G	XP_016884293.1:p.Asp1424Gly
XM_017028805.1:c.4271A>G	XP_016884294.1:p.Asp1424Gly
XM_017028806.1:c.4271A>G	XP_016884295.1:p.Asp1424Gly
NM_002473.6:c.4271A>G MANE Select	NP_002464.1:p.Asp1424Gly