Canonical Allele Identifier: CA10210705

Gene: MYH9

Linked Data

• ClinVar Variation Id: 504626
• ClinVar RCV Id: RCV000610555 ; RCV000765636 ; RCV002531128
• dbSNP Id: rs377348805
• ExAC: 22:36745089 C / T
• gnomAD v2: 22-36745089-C-T
• gnomAD v3: 22-36349044-C-T
• gnomAD v4: 22-36349044-C-T
• MyVariant Identifiers: chr22:g.36745089C>T (hg19) ; chr22:g.36349044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36349044C>T , CM000684.2:g.36349044C>T	GRCh38
NC_000022.10:g.36745089C>T , CM000684.1:g.36745089C>T	GRCh37
NC_000022.9:g.35075035C>T	NCBI36
NG_011884.2:g.43975G>A , LRG_567:g.43975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.407G>A
ENST00000685191.1:n.416G>A
ENST00000685801.1:c.193G>A	ENSP00000510688.1:p.Val65Met
ENST00000688137.1:c.193G>A	ENSP00000510189.1:p.Val65Met
ENST00000691296.1:c.193G>A	ENSP00000509816.1:p.Val65Met
ENST00000691687.1:n.407G>A
ENST00000692930.1:n.407G>A
ENST00000216181.11:c.193G>A MANE Select	ENSP00000216181.6:p.Val65Met
ENST00000216181.9:c.193G>A	ENSP00000216181.5:p.Val65Met
ENST00000401701.1:c.193G>A	ENSP00000384631.1:p.Val65Met
ENST00000456729.1:c.193G>A	ENSP00000414852.1:p.Val65Met
NM_002473.5:c.193G>A , LRG_567t1:c.193G>A	NP_002464.1:p.Val65Met
XM_011530197.1:c.193G>A	XP_011528499.1:p.Val65Met
XM_011530197.2:c.193G>A	XP_011528499.1:p.Val65Met
XM_017028803.1:c.193G>A	XP_016884292.1:p.Val65Met
XM_017028804.1:c.193G>A	XP_016884293.1:p.Val65Met
XM_017028805.1:c.193G>A	XP_016884294.1:p.Val65Met
XM_017028806.1:c.193G>A	XP_016884295.1:p.Val65Met
NM_002473.6:c.193G>A MANE Select	NP_002464.1:p.Val65Met