Canonical Allele Identifier: CA639148281

Gene: MYH9

Linked Data

• dbSNP Id: rs1328196035
• gnomAD v2: 22-36678148-A-G
• gnomAD v3: 22-36282102-A-G
• gnomAD v4: 22-36282102-A-G
• MyVariant Identifiers: chr22:g.36678148A>G (hg19) ; chr22:g.36282102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282102A>G , CM000684.2:g.36282102A>G	GRCh38
NC_000022.10:g.36678148A>G , CM000684.1:g.36678148A>G	GRCh37
NC_000022.9:g.35008094A>G	NCBI36
NG_011884.2:g.110917T>C , LRG_567:g.110917T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2882T>C
ENST00000685801.1:c.*566T>C	ENSP00000510688.1:n.*566T>C
ENST00000690244.1:n.1785T>C
ENST00000691109.1:n.6744T>C
ENST00000216181.11:c.*566T>C MANE Select	ENSP00000216181.6:n.*566T>C
ENST00000216181.9:c.*566T>C	ENSP00000216181.5:n.*566T>C
NM_002473.5:c.*566T>C , LRG_567t1:c.*566T>C	NP_002464.1:n.*566T>C
XM_011530197.1:c.*566T>C	XP_011528499.1:n.*566T>C
XM_011530197.2:c.*566T>C	XP_011528499.1:n.*566T>C
XM_017028803.1:c.*566T>C	XP_016884292.1:n.*566T>C
XM_017028804.1:c.*566T>C	XP_016884293.1:n.*566T>C
XM_017028805.1:c.*566T>C	XP_016884294.1:n.*566T>C
XM_017028806.1:c.*566T>C	XP_016884295.1:n.*566T>C
NM_002473.6:c.*566T>C MANE Select	NP_002464.1:n.*566T>C