Canonical Allele Identifier: CA1025462355

Gene: MYH9

Linked Data

• dbSNP Id: rs2016498713
• gnomAD v3: 22-36282074-C-T
• gnomAD v4: 22-36282074-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282074C>T , CM000684.2:g.36282074C>T	GRCh38
NC_000022.10:g.36678120C>T , CM000684.1:g.36678120C>T	GRCh37
NC_000022.9:g.35008066C>T	NCBI36
NG_011884.2:g.110945G>A , LRG_567:g.110945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2910G>A
ENST00000685801.1:c.*594G>A	ENSP00000510688.1:n.*594G>A
ENST00000690244.1:n.1813G>A
ENST00000691109.1:n.6772G>A
ENST00000216181.11:c.*594G>A MANE Select	ENSP00000216181.6:n.*594G>A
ENST00000216181.9:c.*594G>A	ENSP00000216181.5:n.*594G>A
NM_002473.5:c.*594G>A , LRG_567t1:c.*594G>A	NP_002464.1:n.*594G>A
XM_011530197.1:c.*594G>A	XP_011528499.1:n.*594G>A
XM_011530197.2:c.*594G>A	XP_011528499.1:n.*594G>A
XM_017028803.1:c.*594G>A	XP_016884292.1:n.*594G>A
XM_017028804.1:c.*594G>A	XP_016884293.1:n.*594G>A
XM_017028805.1:c.*594G>A	XP_016884294.1:n.*594G>A
XM_017028806.1:c.*594G>A	XP_016884295.1:n.*594G>A
NM_002473.6:c.*594G>A MANE Select	NP_002464.1:n.*594G>A