Canonical Allele Identifier: CA10209162
Gene: MYH9 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36285878T>C
GRCh37 chr22:g.36681924T>C
Revel Score:
ENST00000337818 0.242
ENST00000397231 0.242
ENST00000216181 (MANE Select) 0.242
gnomAD v2:
22:36681924 T / C
gnomAD v3:
22:36285878 T / C
gnomAD v4:
chr22-36285878-T-C
Joint Max Group AF 0.00001327 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV000454246
ClinVar Variation:
402285
dbSNP:
764139009
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36285878T>C , CM000684.2:g.36285878T>C GRCh38
NC_000022.10:g.36681924T>C , CM000684.1:g.36681924T>C GRCh37
NC_000022.9:g.35011870T>C NCBI36
NG_011884.2:g.107141A>G , LRG_567:g.107141A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.1570A>G
ENST00000685801.1:c.5200A>G ENSP00000510688.1:p.Ser1734Gly
ENST00000690244.1:n.473A>G
ENST00000691109.1:n.5432A>G
ENST00000216181.11:c.5137A>G MANE Select ENSP00000216181.6:p.Ser1713Gly
ENST00000216181.9:c.5137A>G ENSP00000216181.5:p.Ser1713Gly
ENST00000475726.5:n.167A>G
ENST00000486218.1:n.144A>G
NM_002473.5:c.5137A>G , LRG_567t1:c.5137A>G NP_002464.1:p.Ser1713Gly
XM_011530197.1:c.5137A>G XP_011528499.1:p.Ser1713Gly
XM_011530197.2:c.5137A>G XP_011528499.1:p.Ser1713Gly
XM_017028803.1:c.5137A>G XP_016884292.1:p.Ser1713Gly
XM_017028804.1:c.5137A>G XP_016884293.1:p.Ser1713Gly
XM_017028805.1:c.5137A>G XP_016884294.1:p.Ser1713Gly
XM_017028806.1:c.5137A>G XP_016884295.1:p.Ser1713Gly
NM_002473.6:c.5137A>G MANE Select NP_002464.1:p.Ser1713Gly
Search 100 bp 5'
Search 100 bp 3'