Canonical Allele Identifier: CA2656426569

Gene: MYH9

Linked Data

• gnomAD v4: 22-36282126-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282126C>A , CM000684.2:g.36282126C>A	GRCh38
NC_000022.10:g.36678172C>A , CM000684.1:g.36678172C>A	GRCh37
NC_000022.9:g.35008118C>A	NCBI36
NG_011884.2:g.110893G>T , LRG_567:g.110893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2858G>T
ENST00000685801.1:c.*542G>T	ENSP00000510688.1:n.*542G>T
ENST00000690244.1:n.1761G>T
ENST00000691109.1:n.6720G>T
ENST00000216181.11:c.*542G>T MANE Select	ENSP00000216181.6:n.*542G>T
ENST00000216181.9:c.*542G>T	ENSP00000216181.5:n.*542G>T
NM_002473.5:c.*542G>T , LRG_567t1:c.*542G>T	NP_002464.1:n.*542G>T
XM_011530197.1:c.*542G>T	XP_011528499.1:n.*542G>T
XM_011530197.2:c.*542G>T	XP_011528499.1:n.*542G>T
XM_017028803.1:c.*542G>T	XP_016884292.1:n.*542G>T
XM_017028804.1:c.*542G>T	XP_016884293.1:n.*542G>T
XM_017028805.1:c.*542G>T	XP_016884294.1:n.*542G>T
XM_017028806.1:c.*542G>T	XP_016884295.1:n.*542G>T
NM_002473.6:c.*542G>T MANE Select	NP_002464.1:n.*542G>T