Canonical Allele Identifier: CA323584731

Gene: MYH9

Linked Data

• dbSNP Id: rs1043509125
• gnomAD v2: 22-36677848-T-C
• gnomAD v3: 22-36281802-T-C
• gnomAD v4: 22-36281802-T-C
• MyVariant Identifiers: chr22:g.36677848T>C (hg19) ; chr22:g.36281802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36281802T>C , CM000684.2:g.36281802T>C	GRCh38
NC_000022.10:g.36677848T>C , CM000684.1:g.36677848T>C	GRCh37
NC_000022.9:g.35007794T>C	NCBI36
NG_011884.2:g.111217A>G , LRG_567:g.111217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.3182A>G
ENST00000685801.1:c.*866A>G	ENSP00000510688.1:n.*866A>G
ENST00000690244.1:n.2085A>G
ENST00000691109.1:n.7044A>G
ENST00000216181.11:c.*866A>G MANE Select	ENSP00000216181.6:n.*866A>G
ENST00000216181.9:c.*866A>G	ENSP00000216181.5:n.*866A>G
NM_002473.5:c.*866A>G , LRG_567t1:c.*866A>G	NP_002464.1:n.*866A>G
XM_011530197.1:c.*866A>G	XP_011528499.1:n.*866A>G
XM_011530197.2:c.*866A>G	XP_011528499.1:n.*866A>G
XM_017028803.1:c.*866A>G	XP_016884292.1:n.*866A>G
XM_017028804.1:c.*866A>G	XP_016884293.1:n.*866A>G
XM_017028805.1:c.*866A>G	XP_016884294.1:n.*866A>G
XM_017028806.1:c.*866A>G	XP_016884295.1:n.*866A>G
NM_002473.6:c.*866A>G MANE Select	NP_002464.1:n.*866A>G