Canonical Allele Identifier: CA10208952
Gene: MYH9 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36284141G>A
GRCh37 chr22:g.36680187G>A
Revel Score:
ENST00000337818 0.383
ENST00000397231 0.383
ENST00000216181 (MANE Select) 0.383
gnomAD v2:
22:36680187 G / A
gnomAD v3:
22:36284141 G / A
gnomAD v4:
chr22-36284141-G-A
Joint Max Group AF 0.00001425 (SAS)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00001779 (AMR)
ClinVar Allele:
338030
ClinVar RCV:
RCV000343175
RCV000392449
RCV003727702
ClinVar Variation:
341492
dbSNP:
149663189
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36284141G>A , CM000684.2:g.36284141G>A GRCh38
NC_000022.10:g.36680187G>A , CM000684.1:g.36680187G>A GRCh37
NC_000022.9:g.35010133G>A NCBI36
NG_011884.2:g.108878C>T , LRG_567:g.108878C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.2150C>T
ENST00000685801.1:c.5780C>T ENSP00000510688.1:p.Thr1927Met
ENST00000690244.1:n.1053C>T
ENST00000691109.1:n.6012C>T
ENST00000216181.11:c.5717C>T MANE Select ENSP00000216181.6:p.Thr1906Met
ENST00000216181.9:c.5717C>T ENSP00000216181.5:p.Thr1906Met
NM_002473.5:c.5717C>T , LRG_567t1:c.5717C>T NP_002464.1:p.Thr1906Met
XM_011530197.1:c.5717C>T XP_011528499.1:p.Thr1906Met
XM_011530197.2:c.5717C>T XP_011528499.1:p.Thr1906Met
XM_017028803.1:c.5717C>T XP_016884292.1:p.Thr1906Met
XM_017028804.1:c.5717C>T XP_016884293.1:p.Thr1906Met
XM_017028805.1:c.5717C>T XP_016884294.1:p.Thr1906Met
XM_017028806.1:c.5717C>T XP_016884295.1:p.Thr1906Met
NM_002473.6:c.5717C>T MANE Select NP_002464.1:p.Thr1906Met
Search 100 bp 5'
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