Canonical Allele Identifier: CA411372887

Gene: MYH9

Linked Data

• dbSNP Id: rs1196851918
• gnomAD v2: 22-36680474-C-T
• gnomAD v3: 22-36284428-C-T
• gnomAD v4: 22-36284428-C-T
• MyVariant Identifiers: chr22:g.36680474C>T (hg19) ; chr22:g.36284428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36284428C>T , CM000684.2:g.36284428C>T	GRCh38
NC_000022.10:g.36680474C>T , CM000684.1:g.36680474C>T	GRCh37
NC_000022.9:g.35010420C>T	NCBI36
NG_011884.2:g.108591G>A , LRG_567:g.108591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2000G>A
ENST00000685801.1:c.5630G>A	ENSP00000510688.1:p.Arg1877Lys
ENST00000690244.1:n.903G>A
ENST00000691109.1:n.5862G>A
ENST00000216181.11:c.5567G>A MANE Select	ENSP00000216181.6:p.Arg1856Lys
ENST00000216181.9:c.5567G>A	ENSP00000216181.5:p.Arg1856Lys
ENST00000475726.5:n.597G>A
ENST00000486218.1:n.574G>A
NM_002473.5:c.5567G>A , LRG_567t1:c.5567G>A	NP_002464.1:p.Arg1856Lys
XM_011530197.1:c.5567G>A	XP_011528499.1:p.Arg1856Lys
XM_011530197.2:c.5567G>A	XP_011528499.1:p.Arg1856Lys
XM_017028803.1:c.5567G>A	XP_016884292.1:p.Arg1856Lys
XM_017028804.1:c.5567G>A	XP_016884293.1:p.Arg1856Lys
XM_017028805.1:c.5567G>A	XP_016884294.1:p.Arg1856Lys
XM_017028806.1:c.5567G>A	XP_016884295.1:p.Arg1856Lys
NM_002473.6:c.5567G>A MANE Select	NP_002464.1:p.Arg1856Lys