Canonical Allele Identifier: CA177154
Gene: MYH9 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36326589C>T
GRCh37 chr22:g.36722634C>T
gnomAD v2:
22:36722634 C / T
gnomAD v3:
22:36326589 C / T
gnomAD v4:
chr22-36326589-C-T
Joint Max Group AF 0.00178667 (AFR)
Genomes Max Group AF 0.00171498 (AFR)
Exomes Max Group AF 0.00164287 (AFR)
ClinVar Allele:
176283
ClinVar RCV:
RCV000151355
RCV000725037
RCV004532681
ClinVar Variation:
164464
dbSNP:
140241271
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36326589C>T , CM000684.2:g.36326589C>T GRCh38
NC_000022.10:g.36722634C>T , CM000684.1:g.36722634C>T GRCh37
NC_000022.9:g.35052580C>T NCBI36
NG_011884.2:g.66430G>A , LRG_567:g.66430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000685187.1:n.805G>A
ENST00000685191.1:n.814G>A
ENST00000685801.1:c.591G>A ENSP00000510688.1:p.Ser197=
ENST00000688137.1:c.591G>A ENSP00000510189.1:p.Ser197=
ENST00000691296.1:c.591G>A ENSP00000509816.1:p.Ser197=
ENST00000691687.1:n.805G>A
ENST00000692930.1:n.805G>A
ENST00000216181.11:c.591G>A MANE Select ENSP00000216181.6:p.Ser197=
ENST00000216181.9:c.591G>A ENSP00000216181.5:p.Ser197=
ENST00000401701.1:c.591G>A ENSP00000384631.1:p.Ser197=
ENST00000463027.1:n.195G>A
NM_002473.5:c.591G>A , LRG_567t1:c.591G>A NP_002464.1:p.Ser197=
XM_011530197.1:c.591G>A XP_011528499.1:p.Ser197=
XM_011530197.2:c.591G>A XP_011528499.1:p.Ser197=
XM_017028803.1:c.591G>A XP_016884292.1:p.Ser197=
XM_017028804.1:c.591G>A XP_016884293.1:p.Ser197=
XM_017028805.1:c.591G>A XP_016884294.1:p.Ser197=
XM_017028806.1:c.591G>A XP_016884295.1:p.Ser197=
NM_002473.6:c.591G>A MANE Select NP_002464.1:p.Ser197=
Search 100 bp 5'
Search 100 bp 3'