Canonical Allele Identifier: CA257082
Gene: MYH9 HGNC NCBI

Linked Data

ClinVar Variation Id: 14072
ClinVar RCV Id: RCV000015116 RCV000790363 RCV001092002 RCV001270545
dbSNP Id: rs80338835
ExAC: 22:36678800 G / A
gnomAD v2: 22-36678800-G-A
gnomAD v3: 22-36282754-G-A
gnomAD v4: 22-36282754-G-A
MyVariant Identifiers: chr22:g.36678800G>A (hg19) chr22:g.36282754G>A (hg38)
PubMed: PMID:10739770 PMID:10973259 PMID:10973260 PMID:11590545 PMID:20301740
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36282754G>A , CM000684.2:g.36282754G>A GRCh38
NC_000022.10:g.36678800G>A , CM000684.1:g.36678800G>A GRCh37
NC_000022.9:g.35008746G>A NCBI36
NG_011884.2:g.110265C>T , LRG_567:g.110265C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000685708.1:n.2230C>T
ENST00000685801.1:c.5860C>T ENSP00000510688.1:p.Arg1954Ter
ENST00000690244.1:n.1133C>T
ENST00000691109.1:n.6092C>T
ENST00000216181.11:c.5797C>T MANE Select ENSP00000216181.6:p.Arg1933Ter
ENST00000216181.9:c.5797C>T ENSP00000216181.5:p.Arg1933Ter
NM_002473.5:c.5797C>T , LRG_567t1:c.5797C>T NP_002464.1:p.Arg1933Ter
XM_011530197.1:c.5797C>T XP_011528499.1:p.Arg1933Ter
XM_011530197.2:c.5797C>T XP_011528499.1:p.Arg1933Ter
XM_017028803.1:c.5797C>T XP_016884292.1:p.Arg1933Ter
XM_017028804.1:c.5797C>T XP_016884293.1:p.Arg1933Ter
XM_017028805.1:c.5797C>T XP_016884294.1:p.Arg1933Ter
XM_017028806.1:c.5797C>T XP_016884295.1:p.Arg1933Ter
NM_002473.6:c.5797C>T MANE Select NP_002464.1:p.Arg1933Ter
Search 100 bp 5'
Search 100 bp 3'