Canonical Allele Identifier: CA2656426486

Gene: MYH9

Linked Data

• gnomAD v4: 22-36282070-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282070T>G , CM000684.2:g.36282070T>G	GRCh38
NC_000022.10:g.36678116T>G , CM000684.1:g.36678116T>G	GRCh37
NC_000022.9:g.35008062T>G	NCBI36
NG_011884.2:g.110949A>C , LRG_567:g.110949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2914A>C
ENST00000685801.1:c.*598A>C	ENSP00000510688.1:n.*598A>C
ENST00000690244.1:n.1817A>C
ENST00000691109.1:n.6776A>C
ENST00000216181.11:c.*598A>C MANE Select	ENSP00000216181.6:n.*598A>C
ENST00000216181.9:c.*598A>C	ENSP00000216181.5:n.*598A>C
NM_002473.5:c.*598A>C , LRG_567t1:c.*598A>C	NP_002464.1:n.*598A>C
XM_011530197.1:c.*598A>C	XP_011528499.1:n.*598A>C
XM_011530197.2:c.*598A>C	XP_011528499.1:n.*598A>C
XM_017028803.1:c.*598A>C	XP_016884292.1:n.*598A>C
XM_017028804.1:c.*598A>C	XP_016884293.1:n.*598A>C
XM_017028805.1:c.*598A>C	XP_016884294.1:n.*598A>C
XM_017028806.1:c.*598A>C	XP_016884295.1:n.*598A>C
NM_002473.6:c.*598A>C MANE Select	NP_002464.1:n.*598A>C