Canonical Allele Identifier: CA323584795

Gene: MYH9

Linked Data

• dbSNP Id: rs905253758
• gnomAD v3: 22-36282087-C-A
• gnomAD v4: 22-36282087-C-A
• MyVariant Identifiers: chr22:g.36678133C>A (hg19) ; chr22:g.36282087C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282087C>A , CM000684.2:g.36282087C>A	GRCh38
NC_000022.10:g.36678133C>A , CM000684.1:g.36678133C>A	GRCh37
NC_000022.9:g.35008079C>A	NCBI36
NG_011884.2:g.110932G>T , LRG_567:g.110932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2897G>T
ENST00000685801.1:c.*581G>T	ENSP00000510688.1:n.*581G>T
ENST00000690244.1:n.1800G>T
ENST00000691109.1:n.6759G>T
ENST00000216181.11:c.*581G>T MANE Select	ENSP00000216181.6:n.*581G>T
ENST00000216181.9:c.*581G>T	ENSP00000216181.5:n.*581G>T
NM_002473.5:c.*581G>T , LRG_567t1:c.*581G>T	NP_002464.1:n.*581G>T
XM_011530197.1:c.*581G>T	XP_011528499.1:n.*581G>T
XM_011530197.2:c.*581G>T	XP_011528499.1:n.*581G>T
XM_017028803.1:c.*581G>T	XP_016884292.1:n.*581G>T
XM_017028804.1:c.*581G>T	XP_016884293.1:n.*581G>T
XM_017028805.1:c.*581G>T	XP_016884294.1:n.*581G>T
XM_017028806.1:c.*581G>T	XP_016884295.1:n.*581G>T
NM_002473.6:c.*581G>T MANE Select	NP_002464.1:n.*581G>T