Canonical Allele Identifier: CA10210738

Gene: MYH9

Linked Data

• ClinVar Variation Id: 504627
• ClinVar RCV Id: RCV000613271 ; RCV001143858 ; RCV001143859 ; RCV002531129 ; RCV001573754
• dbSNP Id: rs201415443
• ExAC: 22:36745250 T / C
• gnomAD v2: 22-36745250-T-C
• gnomAD v3: 22-36349205-T-C
• gnomAD v4: 22-36349205-T-C
• MyVariant Identifiers: chr22:g.36745250T>C (hg19) ; chr22:g.36349205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36349205T>C , CM000684.2:g.36349205T>C	GRCh38
NC_000022.10:g.36745250T>C , CM000684.1:g.36745250T>C	GRCh37
NC_000022.9:g.35075196T>C	NCBI36
NG_011884.2:g.43814A>G , LRG_567:g.43814A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.246A>G
ENST00000685191.1:n.255A>G
ENST00000685801.1:c.32A>G	ENSP00000510688.1:p.Tyr11Cys
ENST00000688137.1:c.32A>G	ENSP00000510189.1:p.Tyr11Cys
ENST00000691296.1:c.32A>G	ENSP00000509816.1:p.Tyr11Cys
ENST00000691687.1:n.246A>G
ENST00000692930.1:n.246A>G
ENST00000216181.11:c.32A>G MANE Select	ENSP00000216181.6:p.Tyr11Cys
ENST00000216181.9:c.32A>G	ENSP00000216181.5:p.Tyr11Cys
ENST00000401701.1:c.32A>G	ENSP00000384631.1:p.Tyr11Cys
ENST00000456729.1:c.32A>G	ENSP00000414852.1:p.Tyr11Cys
NM_002473.5:c.32A>G , LRG_567t1:c.32A>G	NP_002464.1:p.Tyr11Cys
XM_011530197.1:c.32A>G	XP_011528499.1:p.Tyr11Cys
XM_011530197.2:c.32A>G	XP_011528499.1:p.Tyr11Cys
XM_017028803.1:c.32A>G	XP_016884292.1:p.Tyr11Cys
XM_017028804.1:c.32A>G	XP_016884293.1:p.Tyr11Cys
XM_017028805.1:c.32A>G	XP_016884294.1:p.Tyr11Cys
XM_017028806.1:c.32A>G	XP_016884295.1:p.Tyr11Cys
NM_002473.6:c.32A>G MANE Select	NP_002464.1:p.Tyr11Cys