Canonical Allele Identifier: CA10645429

Gene: MYH9

Linked Data

• ClinVar Variation Id: 341469
• ClinVar RCV Id: RCV000259642 ; RCV000370334
• dbSNP Id: rs7078
• gnomAD v2: 22-36677914-A-G
• gnomAD v3: 22-36281868-A-G
• gnomAD v4: 22-36281868-A-G
• MyVariant Identifiers: chr22:g.36677914A>G (hg19) ; chr22:g.36281868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36281868A>G , CM000684.2:g.36281868A>G	GRCh38
NC_000022.10:g.36677914A>G , CM000684.1:g.36677914A>G	GRCh37
NC_000022.9:g.35007860A>G	NCBI36
NG_011884.2:g.111151T>C , LRG_567:g.111151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.3116T>C
ENST00000685801.1:c.*800T>C	ENSP00000510688.1:n.*800T>C
ENST00000690244.1:n.2019T>C
ENST00000691109.1:n.6978T>C
ENST00000216181.11:c.*800T>C MANE Select	ENSP00000216181.6:n.*800T>C
ENST00000216181.9:c.*800T>C	ENSP00000216181.5:n.*800T>C
NM_002473.5:c.*800T>C , LRG_567t1:c.*800T>C	NP_002464.1:n.*800T>C
XM_011530197.1:c.*800T>C	XP_011528499.1:n.*800T>C
XM_011530197.2:c.*800T>C	XP_011528499.1:n.*800T>C
XM_017028803.1:c.*800T>C	XP_016884292.1:n.*800T>C
XM_017028804.1:c.*800T>C	XP_016884293.1:n.*800T>C
XM_017028805.1:c.*800T>C	XP_016884294.1:n.*800T>C
XM_017028806.1:c.*800T>C	XP_016884295.1:n.*800T>C
NM_002473.6:c.*800T>C MANE Select	NP_002464.1:n.*800T>C