Canonical Allele Identifier: CA323585217

Gene: MYH9

Linked Data

• ClinVar Variation Id: 506254
• ClinVar RCV Id: RCV000612104
• dbSNP Id: rs991435881
• gnomAD v2: 22-36680467-G-A
• gnomAD v3: 22-36284421-G-A
• gnomAD v4: 22-36284421-G-A
• MyVariant Identifiers: chr22:g.36680467G>A (hg19) ; chr22:g.36284421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36284421G>A , CM000684.2:g.36284421G>A	GRCh38
NC_000022.10:g.36680467G>A , CM000684.1:g.36680467G>A	GRCh37
NC_000022.9:g.35010413G>A	NCBI36
NG_011884.2:g.108598C>T , LRG_567:g.108598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2007C>T
ENST00000685801.1:c.5637C>T	ENSP00000510688.1:p.Ala1879=
ENST00000690244.1:n.910C>T
ENST00000691109.1:n.5869C>T
ENST00000216181.11:c.5574C>T MANE Select	ENSP00000216181.6:p.Ala1858=
ENST00000216181.9:c.5574C>T	ENSP00000216181.5:p.Ala1858=
ENST00000475726.5:n.604C>T
ENST00000486218.1:n.581C>T
NM_002473.5:c.5574C>T , LRG_567t1:c.5574C>T	NP_002464.1:p.Ala1858=
XM_011530197.1:c.5574C>T	XP_011528499.1:p.Ala1858=
XM_011530197.2:c.5574C>T	XP_011528499.1:p.Ala1858=
XM_017028803.1:c.5574C>T	XP_016884292.1:p.Ala1858=
XM_017028804.1:c.5574C>T	XP_016884293.1:p.Ala1858=
XM_017028805.1:c.5574C>T	XP_016884294.1:p.Ala1858=
XM_017028806.1:c.5574C>T	XP_016884295.1:p.Ala1858=
NM_002473.6:c.5574C>T MANE Select	NP_002464.1:p.Ala1858=