Canonical Allele Identifier: CA10645439
Gene: MYH9 HGNC NCBI

Linked Data

ClinVar Variation Id: 341477
dbSNP Id: rs55979529

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36282194G>A , CM000684.2:g.36282194G>A GRCh38
NC_000022.10:g.36678240G>A , CM000684.1:g.36678240G>A GRCh37
NC_000022.9:g.35008186G>A NCBI36
NG_011884.2:g.110825C>T , LRG_567:g.110825C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.2790C>T
ENST00000685801.1:c.*474C>T ENSP00000510688.1:n.*474C>T
ENST00000690244.1:n.1693C>T
ENST00000691109.1:n.6652C>T
ENST00000216181.11:c.*474C>T MANE Select ENSP00000216181.6:n.*474C>T
ENST00000216181.9:c.*474C>T ENSP00000216181.5:n.*474C>T
NM_002473.5:c.*474C>T , LRG_567t1:c.*474C>T NP_002464.1:n.*474C>T
XM_011530197.1:c.*474C>T XP_011528499.1:n.*474C>T
XM_011530197.2:c.*474C>T XP_011528499.1:n.*474C>T
XM_017028803.1:c.*474C>T XP_016884292.1:n.*474C>T
XM_017028804.1:c.*474C>T XP_016884293.1:n.*474C>T
XM_017028805.1:c.*474C>T XP_016884294.1:n.*474C>T
XM_017028806.1:c.*474C>T XP_016884295.1:n.*474C>T
NM_002473.6:c.*474C>T MANE Select NP_002464.1:n.*474C>T