Canonical Allele Identifier: CA134512

Gene: MYH9

Linked Data

• ClinVar Variation Id: 44550
• ClinVar RCV Id: RCV000037547 ; RCV000334868 ; RCV000392730 ; RCV001778677 ; RCV002054668
• dbSNP Id: rs3752462
• ExAC: 22:36710183 T / C
• gnomAD v2: 22-36710183-T-C
• gnomAD v3: 22-36314138-T-C
• gnomAD v4: 22-36314138-T-C
• MyVariant Identifiers: chr22:g.36710183T>C (hg19) ; chr22:g.36314138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36314138T>C , CM000684.2:g.36314138T>C	GRCh38
NC_000022.10:g.36710183T>C , CM000684.1:g.36710183T>C	GRCh37
NC_000022.9:g.35040129T>C	NCBI36
NG_011884.2:g.78881A>G , LRG_567:g.78881A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685187.1:n.1768+7A>G
ENST00000685801.1:c.1554+7A>G	ENSP00000510688.1:n.1554+7A>G
ENST00000691109.1:n.1849+7A>G
ENST00000691687.1:n.2352+7A>G
ENST00000692930.1:n.1768+7A>G
ENST00000216181.11:c.1554+7A>G MANE Select	ENSP00000216181.6:n.1554+7A>G
ENST00000216181.9:c.1554+7A>G	ENSP00000216181.5:n.1554+7A>G
NM_002473.5:c.1554+7A>G , LRG_567t1:c.1554+7A>G	NP_002464.1:n.1554+7A>G
XM_011530197.1:c.1554+7A>G	XP_011528499.1:n.1554+7A>G
XM_011530197.2:c.1554+7A>G	XP_011528499.1:n.1554+7A>G
XM_017028803.1:c.1554+7A>G	XP_016884292.1:n.1554+7A>G
XM_017028804.1:c.1554+7A>G	XP_016884293.1:n.1554+7A>G
XM_017028805.1:c.1554+7A>G	XP_016884294.1:n.1554+7A>G
XM_017028806.1:c.1554+7A>G	XP_016884295.1:n.1554+7A>G
NM_002473.6:c.1554+7A>G MANE Select	NP_002464.1:n.1554+7A>G