Canonical Allele Identifier: CA323591193

Gene: MYH9

Linked Data

• ClinVar Variation Id: 507628
• ClinVar RCV Id: RCV001697411 ; RCV004530756
• dbSNP Id: rs775695035
• gnomAD v2: 22-36689800-C-T
• gnomAD v3: 22-36293754-C-T
• gnomAD v4: 22-36293754-C-T
• MyVariant Identifiers: chr22:g.36689800C>T (hg19) ; chr22:g.36293754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36293754C>T , CM000684.2:g.36293754C>T	GRCh38
NC_000022.10:g.36689800C>T , CM000684.1:g.36689800C>T	GRCh37
NC_000022.9:g.35019746C>T	NCBI36
NG_011884.2:g.99265G>A , LRG_567:g.99265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.4005+5G>A	ENSP00000510688.1:n.4005+5G>A
ENST00000691109.1:n.4237+5G>A
ENST00000216181.11:c.3942+5G>A MANE Select	ENSP00000216181.6:n.3942+5G>A
ENST00000216181.9:c.3942+5G>A	ENSP00000216181.5:n.3942+5G>A
NM_002473.5:c.3942+5G>A , LRG_567t1:c.3942+5G>A	NP_002464.1:n.3942+5G>A
XM_011530197.1:c.3942+5G>A	XP_011528499.1:n.3942+5G>A
XM_011530197.2:c.3942+5G>A	XP_011528499.1:n.3942+5G>A
XM_017028803.1:c.3942+5G>A	XP_016884292.1:n.3942+5G>A
XM_017028804.1:c.3942+5G>A	XP_016884293.1:n.3942+5G>A
XM_017028805.1:c.3942+5G>A	XP_016884294.1:n.3942+5G>A
XM_017028806.1:c.3942+5G>A	XP_016884295.1:n.3942+5G>A
NM_002473.6:c.3942+5G>A MANE Select	NP_002464.1:n.3942+5G>A