Canonical Allele Identifier: CA10209593

Gene: MYH9

Linked Data

• ClinVar Variation Id: 341511
• ClinVar RCV Id: RCV000271817 ; RCV000326885 ; RCV002480197 ; RCV002523221
• dbSNP Id: rs200697030
• ExAC: 22:36690298 C / T
• gnomAD v2: 22-36690298-C-T
• gnomAD v3: 22-36294252-C-T
• gnomAD v4: 22-36294252-C-T
• MyVariant Identifiers: chr22:g.36690298C>T (hg19) ; chr22:g.36294252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36294252C>T , CM000684.2:g.36294252C>T	GRCh38
NC_000022.10:g.36690298C>T , CM000684.1:g.36690298C>T	GRCh37
NC_000022.9:g.35020244C>T	NCBI36
NG_011884.2:g.98767G>A , LRG_567:g.98767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.3740G>A	ENSP00000510688.1:p.Arg1247Gln
ENST00000691109.1:n.3972G>A
ENST00000216181.11:c.3677G>A MANE Select	ENSP00000216181.6:p.Arg1226Gln
ENST00000216181.9:c.3677G>A	ENSP00000216181.5:p.Arg1226Gln
NM_002473.5:c.3677G>A , LRG_567t1:c.3677G>A	NP_002464.1:p.Arg1226Gln
XM_011530197.1:c.3677G>A	XP_011528499.1:p.Arg1226Gln
XM_011530197.2:c.3677G>A	XP_011528499.1:p.Arg1226Gln
XM_017028803.1:c.3677G>A	XP_016884292.1:p.Arg1226Gln
XM_017028804.1:c.3677G>A	XP_016884293.1:p.Arg1226Gln
XM_017028805.1:c.3677G>A	XP_016884294.1:p.Arg1226Gln
XM_017028806.1:c.3677G>A	XP_016884295.1:p.Arg1226Gln
NM_002473.6:c.3677G>A MANE Select	NP_002464.1:p.Arg1226Gln