Canonical Allele Identifier: CA257093
Gene: MYH9 HGNC NCBI

Linked Data

ClinVar Variation Id: 14077
ClinVar RCV Id: RCV000015124 RCV002513057
dbSNP Id: rs121913656
MyVariant Identifiers: chr22:g.36691572G>A (hg19) chr22:g.36295526G>A (hg38)
PubMed: PMID:10973260 PMID:12792306
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36295526G>A , CM000684.2:g.36295526G>A GRCh38
NC_000022.10:g.36691572G>A , CM000684.1:g.36691572G>A GRCh37
NC_000022.9:g.35021518G>A NCBI36
NG_011884.2:g.97493C>T , LRG_567:g.97493C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000685801.1:c.3527C>T ENSP00000510688.1:p.Thr1176Ile
ENST00000691109.1:n.3759C>T
ENST00000216181.11:c.3464C>T MANE Select ENSP00000216181.6:p.Thr1155Ile
ENST00000216181.9:c.3464C>T ENSP00000216181.5:p.Thr1155Ile
ENST00000459960.1:n.673C>T
NM_002473.5:c.3464C>T , LRG_567t1:c.3464C>T NP_002464.1:p.Thr1155Ile
XM_011530197.1:c.3464C>T XP_011528499.1:p.Thr1155Ile
XM_011530197.2:c.3464C>T XP_011528499.1:p.Thr1155Ile
XM_017028803.1:c.3464C>T XP_016884292.1:p.Thr1155Ile
XM_017028804.1:c.3464C>T XP_016884293.1:p.Thr1155Ile
XM_017028805.1:c.3464C>T XP_016884294.1:p.Thr1155Ile
XM_017028806.1:c.3464C>T XP_016884295.1:p.Thr1155Ile
NM_002473.6:c.3464C>T MANE Select NP_002464.1:p.Thr1155Ile
Search 100 bp 5'
Search 100 bp 3'