Canonical Allele Identifier: CA1025462374

Gene: MYH9

Linked Data

• dbSNP Id: rs2016500004
• gnomAD v3: 22-36282133-T-C
• gnomAD v4: 22-36282133-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282133T>C , CM000684.2:g.36282133T>C	GRCh38
NC_000022.10:g.36678179T>C , CM000684.1:g.36678179T>C	GRCh37
NC_000022.9:g.35008125T>C	NCBI36
NG_011884.2:g.110886A>G , LRG_567:g.110886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2851A>G
ENST00000685801.1:c.*535A>G	ENSP00000510688.1:n.*535A>G
ENST00000690244.1:n.1754A>G
ENST00000691109.1:n.6713A>G
ENST00000216181.11:c.*535A>G MANE Select	ENSP00000216181.6:n.*535A>G
ENST00000216181.9:c.*535A>G	ENSP00000216181.5:n.*535A>G
NM_002473.5:c.*535A>G , LRG_567t1:c.*535A>G	NP_002464.1:n.*535A>G
XM_011530197.1:c.*535A>G	XP_011528499.1:n.*535A>G
XM_011530197.2:c.*535A>G	XP_011528499.1:n.*535A>G
XM_017028803.1:c.*535A>G	XP_016884292.1:n.*535A>G
XM_017028804.1:c.*535A>G	XP_016884293.1:n.*535A>G
XM_017028805.1:c.*535A>G	XP_016884294.1:n.*535A>G
XM_017028806.1:c.*535A>G	XP_016884295.1:n.*535A>G
NM_002473.6:c.*535A>G MANE Select	NP_002464.1:n.*535A>G