Canonical Allele Identifier: CA347309

Gene: MYH9

Linked Data

• ClinVar Variation Id: 204783
• ClinVar RCV Id: RCV000192270 ; RCV000790360
• dbSNP Id: rs797044804
• MyVariant Identifiers: chr22:g.36688036T>A (hg19) ; chr22:g.36291990T>A (hg38)
• PubMed: PMID:20301740

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36291990T>A , CM000684.2:g.36291990T>A	GRCh38
NC_000022.10:g.36688036T>A , CM000684.1:g.36688036T>A	GRCh37
NC_000022.9:g.35017982T>A	NCBI36
NG_011884.2:g.101029A>T , LRG_567:g.101029A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.4403A>T	ENSP00000510688.1:p.Asp1468Val
ENST00000691109.1:n.4635A>T
ENST00000216181.11:c.4340A>T MANE Select	ENSP00000216181.6:p.Asp1447Val
ENST00000216181.9:c.4340A>T	ENSP00000216181.5:p.Asp1447Val
NM_002473.5:c.4340A>T , LRG_567t1:c.4340A>T	NP_002464.1:p.Asp1447Val
XM_011530197.1:c.4340A>T	XP_011528499.1:p.Asp1447Val
XM_011530197.2:c.4340A>T	XP_011528499.1:p.Asp1447Val
XM_017028803.1:c.4340A>T	XP_016884292.1:p.Asp1447Val
XM_017028804.1:c.4340A>T	XP_016884293.1:p.Asp1447Val
XM_017028805.1:c.4340A>T	XP_016884294.1:p.Asp1447Val
XM_017028806.1:c.4340A>T	XP_016884295.1:p.Asp1447Val
NM_002473.6:c.4340A>T MANE Select	NP_002464.1:p.Asp1447Val