Canonical Allele Identifier: CA257091

Gene: MYH9

Linked Data

• ClinVar Variation Id: 14076
• ClinVar RCV Id: RCV000032223
• dbSNP Id: rs80338831
• MyVariant Identifiers: chr22:g.36688106C>G (hg19) ; chr22:g.36292060C>G (hg38)
• PubMed: PMID:10973259 ; PMID:11093280 ; PMID:20301740

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36292060C>G , CM000684.2:g.36292060C>G	GRCh38
NC_000022.10:g.36688106C>G , CM000684.1:g.36688106C>G	GRCh37
NC_000022.9:g.35018052C>G	NCBI36
NG_011884.2:g.100959G>C , LRG_567:g.100959G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.4333G>C	ENSP00000510688.1:p.Asp1445His
ENST00000691109.1:n.4565G>C
ENST00000216181.11:c.4270G>C MANE Select	ENSP00000216181.6:p.Asp1424His
ENST00000216181.9:c.4270G>C	ENSP00000216181.5:p.Asp1424His
NM_002473.5:c.4270G>C , LRG_567t1:c.4270G>C	NP_002464.1:p.Asp1424His
XM_011530197.1:c.4270G>C	XP_011528499.1:p.Asp1424His
XM_011530197.2:c.4270G>C	XP_011528499.1:p.Asp1424His
XM_017028803.1:c.4270G>C	XP_016884292.1:p.Asp1424His
XM_017028804.1:c.4270G>C	XP_016884293.1:p.Asp1424His
XM_017028805.1:c.4270G>C	XP_016884294.1:p.Asp1424His
XM_017028806.1:c.4270G>C	XP_016884295.1:p.Asp1424His
NM_002473.6:c.4270G>C MANE Select	NP_002464.1:p.Asp1424His