Canonical Allele Identifier: CA123739

Gene: MYH9

Linked Data

• ClinVar Variation Id: 14082
• ClinVar RCV Id: RCV000015134 ; RCV000790358 ; RCV001271110 ; RCV002496364 ; RCV002513058 ; RCV002466404
• dbSNP Id: rs80338831
• MyVariant Identifiers: chr22:g.36688106C>T (hg19) ; chr22:g.36292060C>T (hg38)
• PubMed: PMID:1449176 ; PMID:11159552 ; PMID:11590545 ; PMID:12621333 ; PMID:12649151 ; PMID:12792306 ; PMID:20301740

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.4333G>A	ENSP00000510688.1:p.Asp1445Asn
ENST00000691109.1:n.4565G>A
ENST00000216181.11:c.4270G>A MANE Select	ENSP00000216181.6:p.Asp1424Asn
ENST00000216181.9:c.4270G>A	ENSP00000216181.5:p.Asp1424Asn
NM_002473.5:c.4270G>A , LRG_567t1:c.4270G>A	NP_002464.1:p.Asp1424Asn
XM_011530197.1:c.4270G>A	XP_011528499.1:p.Asp1424Asn
XM_011530197.2:c.4270G>A	XP_011528499.1:p.Asp1424Asn
XM_017028803.1:c.4270G>A	XP_016884292.1:p.Asp1424Asn
XM_017028804.1:c.4270G>A	XP_016884293.1:p.Asp1424Asn
XM_017028805.1:c.4270G>A	XP_016884294.1:p.Asp1424Asn
XM_017028806.1:c.4270G>A	XP_016884295.1:p.Asp1424Asn
NM_002473.6:c.4270G>A MANE Select	NP_002464.1:p.Asp1424Asn