Canonical Allele Identifier: CA10645433
Gene: MYH9 HGNC NCBI

Linked Data

ClinVar Variation Id: 341475
dbSNP Id: rs136200

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36282072C>T , CM000684.2:g.36282072C>T GRCh38
NC_000022.10:g.36678118C>T , CM000684.1:g.36678118C>T GRCh37
NC_000022.9:g.35008064C>T NCBI36
NG_011884.2:g.110947G>A , LRG_567:g.110947G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.2912G>A
ENST00000685801.1:c.*596G>A ENSP00000510688.1:n.*596G>A
ENST00000690244.1:n.1815G>A
ENST00000691109.1:n.6774G>A
ENST00000216181.11:c.*596G>A MANE Select ENSP00000216181.6:n.*596G>A
ENST00000216181.9:c.*596G>A ENSP00000216181.5:n.*596G>A
NM_002473.5:c.*596G>A , LRG_567t1:c.*596G>A NP_002464.1:n.*596G>A
XM_011530197.1:c.*596G>A XP_011528499.1:n.*596G>A
XM_011530197.2:c.*596G>A XP_011528499.1:n.*596G>A
XM_017028803.1:c.*596G>A XP_016884292.1:n.*596G>A
XM_017028804.1:c.*596G>A XP_016884293.1:n.*596G>A
XM_017028805.1:c.*596G>A XP_016884294.1:n.*596G>A
XM_017028806.1:c.*596G>A XP_016884295.1:n.*596G>A
NM_002473.6:c.*596G>A MANE Select NP_002464.1:n.*596G>A