Canonical Allele Identifier: CA177099
Gene: MYH9 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36292105C>T
GRCh37 chr22:g.36688151C>T
Revel Score:
ENST00000216181 (MANE Select) 0.499
gnomAD v2:
22:36688151 C / T
gnomAD v3:
22:36292105 C / T
gnomAD v4:
chr22-36292105-C-T
Joint Max Group AF 0.00069883 (NFE)
Genomes Max Group AF 0.00034215 (NFE)
Exomes Max Group AF 0.00071371 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36292105C>T , CM000684.2:g.36292105C>T GRCh38
NC_000022.10:g.36688151C>T , CM000684.1:g.36688151C>T GRCh37
NC_000022.9:g.35018097C>T NCBI36
NG_011884.2:g.100914G>A , LRG_567:g.100914G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000685801.1:c.4288G>A ENSP00000510688.1:p.Asp1430Asn
ENST00000691109.1:n.4520G>A
ENST00000216181.11:c.4225G>A MANE Select ENSP00000216181.6:p.Asp1409Asn
ENST00000216181.9:c.4225G>A ENSP00000216181.5:p.Asp1409Asn
NM_002473.5:c.4225G>A , LRG_567t1:c.4225G>A NP_002464.1:p.Asp1409Asn
XM_011530197.1:c.4225G>A XP_011528499.1:p.Asp1409Asn
XM_011530197.2:c.4225G>A XP_011528499.1:p.Asp1409Asn
XM_017028803.1:c.4225G>A XP_016884292.1:p.Asp1409Asn
XM_017028804.1:c.4225G>A XP_016884293.1:p.Asp1409Asn
XM_017028805.1:c.4225G>A XP_016884294.1:p.Asp1409Asn
XM_017028806.1:c.4225G>A XP_016884295.1:p.Asp1409Asn
NM_002473.6:c.4225G>A MANE Select NP_002464.1:p.Asp1409Asn
Search 100 bp 5'
Search 100 bp 3'