Canonical Allele Identifier: CA177066
Gene: MYH9 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36285744G>A
GRCh37 chr22:g.36681790G>A
Revel Score:
ENST00000337818 0.850
ENST00000397231 0.850
ENST00000216181 (MANE Select) 0.850
gnomAD v2:
22:36681790 G / A
gnomAD v3:
22:36285744 G / A
gnomAD v4:
chr22-36285744-G-A
Joint Max Group AF 0.00094759 (EAS)
Genomes Max Group AF 0.00063174 (EAS)
Exomes Max Group AF 0.00091573 (EAS)
ClinVar Allele:
176376
ClinVar RCV:
RCV000151321
RCV001575204
ClinVar Variation:
164417
dbSNP:
201021615
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36285744G>A , CM000684.2:g.36285744G>A GRCh38
NC_000022.10:g.36681790G>A , CM000684.1:g.36681790G>A GRCh37
NC_000022.9:g.35011736G>A NCBI36
NG_011884.2:g.107275C>T , LRG_567:g.107275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.1621C>T
ENST00000685801.1:c.5251C>T ENSP00000510688.1:p.Arg1751Cys
ENST00000690244.1:n.524C>T
ENST00000691109.1:n.5483C>T
ENST00000216181.11:c.5188C>T MANE Select ENSP00000216181.6:p.Arg1730Cys
ENST00000216181.9:c.5188C>T ENSP00000216181.5:p.Arg1730Cys
ENST00000475726.5:n.218C>T
ENST00000486218.1:n.195C>T
NM_002473.5:c.5188C>T , LRG_567t1:c.5188C>T NP_002464.1:p.Arg1730Cys
XM_011530197.1:c.5188C>T XP_011528499.1:p.Arg1730Cys
XM_011530197.2:c.5188C>T XP_011528499.1:p.Arg1730Cys
XM_017028803.1:c.5188C>T XP_016884292.1:p.Arg1730Cys
XM_017028804.1:c.5188C>T XP_016884293.1:p.Arg1730Cys
XM_017028805.1:c.5188C>T XP_016884294.1:p.Arg1730Cys
XM_017028806.1:c.5188C>T XP_016884295.1:p.Arg1730Cys
NM_002473.6:c.5188C>T MANE Select NP_002464.1:p.Arg1730Cys
Search 100 bp 5'
Search 100 bp 3'