Canonical Allele Identifier: CA10645429
Gene: MYH9 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36281868A>G
GRCh37 chr22:g.36677914A>G
gnomAD v2:
22:36677914 A / G
gnomAD v3:
22:36281868 A / G
gnomAD v4:
chr22-36281868-A-G
Joint Max Group AF 0.2941553 (NFE)
Genomes Max Group AF 0.29127416 (NFE)
Exomes Max Group AF 0.29565208 (NFE)
ClinVar RCV:
RCV000259642
RCV000370334
ClinVar Variation:
341469
dbSNP:
7078
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36281868A>G , CM000684.2:g.36281868A>G GRCh38
NC_000022.10:g.36677914A>G , CM000684.1:g.36677914A>G GRCh37
NC_000022.9:g.35007860A>G NCBI36
NG_011884.2:g.111151T>C , LRG_567:g.111151T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.3116T>C
ENST00000685801.1:c.*800T>C ENSP00000510688.1:n.*800T>C
ENST00000690244.1:n.2019T>C
ENST00000691109.1:n.6978T>C
ENST00000216181.11:c.*800T>C MANE Select ENSP00000216181.6:n.*800T>C
ENST00000216181.9:c.*800T>C ENSP00000216181.5:n.*800T>C
NM_002473.5:c.*800T>C , LRG_567t1:c.*800T>C NP_002464.1:n.*800T>C
XM_011530197.1:c.*800T>C XP_011528499.1:n.*800T>C
XM_011530197.2:c.*800T>C XP_011528499.1:n.*800T>C
XM_017028803.1:c.*800T>C XP_016884292.1:n.*800T>C
XM_017028804.1:c.*800T>C XP_016884293.1:n.*800T>C
XM_017028805.1:c.*800T>C XP_016884294.1:n.*800T>C
XM_017028806.1:c.*800T>C XP_016884295.1:n.*800T>C
NM_002473.6:c.*800T>C MANE Select NP_002464.1:n.*800T>C
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