Canonical Allele Identifier: CA10653464
Gene: MYH9 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36294291G>C
GRCh37 chr22:g.36690337G>C
Revel Score:
ENST00000216181 (MANE Select) 0.212
gnomAD v2:
22:36690337 G / C
gnomAD v3:
22:36294291 G / C
gnomAD v4:
chr22-36294291-G-C
Joint Max Group AF 0.0000122 (NFE)
Genomes Max Group AF 0.00004764 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36294291G>C , CM000684.2:g.36294291G>C GRCh38
NC_000022.10:g.36690337G>C , CM000684.1:g.36690337G>C GRCh37
NC_000022.9:g.35020283G>C NCBI36
NG_011884.2:g.98728C>G , LRG_567:g.98728C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000685801.1:c.3701C>G ENSP00000510688.1:p.Ala1234Gly
ENST00000691109.1:n.3933C>G
ENST00000216181.11:c.3638C>G MANE Select ENSP00000216181.6:p.Ala1213Gly
ENST00000216181.9:c.3638C>G ENSP00000216181.5:p.Ala1213Gly
NM_002473.5:c.3638C>G , LRG_567t1:c.3638C>G NP_002464.1:p.Ala1213Gly
XM_011530197.1:c.3638C>G XP_011528499.1:p.Ala1213Gly
XM_011530197.2:c.3638C>G XP_011528499.1:p.Ala1213Gly
XM_017028803.1:c.3638C>G XP_016884292.1:p.Ala1213Gly
XM_017028804.1:c.3638C>G XP_016884293.1:p.Ala1213Gly
XM_017028805.1:c.3638C>G XP_016884294.1:p.Ala1213Gly
XM_017028806.1:c.3638C>G XP_016884295.1:p.Ala1213Gly
NM_002473.6:c.3638C>G MANE Select NP_002464.1:p.Ala1213Gly
Search 100 bp 5'
Search 100 bp 3'