Canonical Allele Identifier: CA10653456
Gene: MYH9 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36282475G>A
GRCh37 chr22:g.36678521G>A
gnomAD v2:
22:36678521 G / A
gnomAD v3:
22:36282475 G / A
gnomAD v4:
chr22-36282475-G-A
Joint Max Group AF 0.00292881 (EAS)
Genomes Max Group AF 0.00369054 (EAS)
Exomes Max Group AF 0.00265125 (EAS)
ClinVar Allele:
351518
ClinVar RCV:
RCV000295275
RCV000352444
ClinVar Variation:
341484
dbSNP:
181364853
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36282475G>A , CM000684.2:g.36282475G>A GRCh38
NC_000022.10:g.36678521G>A , CM000684.1:g.36678521G>A GRCh37
NC_000022.9:g.35008467G>A NCBI36
NG_011884.2:g.110544C>T , LRG_567:g.110544C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.2509C>T
ENST00000685801.1:c.*193C>T ENSP00000510688.1:n.*193C>T
ENST00000690244.1:n.1412C>T
ENST00000691109.1:n.6371C>T
ENST00000216181.11:c.*193C>T MANE Select ENSP00000216181.6:n.*193C>T
ENST00000216181.9:c.*193C>T ENSP00000216181.5:n.*193C>T
NM_002473.5:c.*193C>T , LRG_567t1:c.*193C>T NP_002464.1:n.*193C>T
XM_011530197.1:c.*193C>T XP_011528499.1:n.*193C>T
XM_011530197.2:c.*193C>T XP_011528499.1:n.*193C>T
XM_017028803.1:c.*193C>T XP_016884292.1:n.*193C>T
XM_017028804.1:c.*193C>T XP_016884293.1:n.*193C>T
XM_017028805.1:c.*193C>T XP_016884294.1:n.*193C>T
XM_017028806.1:c.*193C>T XP_016884295.1:n.*193C>T
NM_002473.6:c.*193C>T MANE Select NP_002464.1:n.*193C>T
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