Canonical Allele Identifier: CA1025462356

Gene: MYH9

Linked Data

• dbSNP Id: rs2016498750
• gnomAD v3: 22-36282078-C-G
• gnomAD v4: 22-36282078-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282078C>G , CM000684.2:g.36282078C>G	GRCh38
NC_000022.10:g.36678124C>G , CM000684.1:g.36678124C>G	GRCh37
NC_000022.9:g.35008070C>G	NCBI36
NG_011884.2:g.110941G>C , LRG_567:g.110941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2906G>C
ENST00000685801.1:c.*590G>C	ENSP00000510688.1:n.*590G>C
ENST00000690244.1:n.1809G>C
ENST00000691109.1:n.6768G>C
ENST00000216181.11:c.*590G>C MANE Select	ENSP00000216181.6:n.*590G>C
ENST00000216181.9:c.*590G>C	ENSP00000216181.5:n.*590G>C
NM_002473.5:c.*590G>C , LRG_567t1:c.*590G>C	NP_002464.1:n.*590G>C
XM_011530197.1:c.*590G>C	XP_011528499.1:n.*590G>C
XM_011530197.2:c.*590G>C	XP_011528499.1:n.*590G>C
XM_017028803.1:c.*590G>C	XP_016884292.1:n.*590G>C
XM_017028804.1:c.*590G>C	XP_016884293.1:n.*590G>C
XM_017028805.1:c.*590G>C	XP_016884294.1:n.*590G>C
XM_017028806.1:c.*590G>C	XP_016884295.1:n.*590G>C
NM_002473.6:c.*590G>C MANE Select	NP_002464.1:n.*590G>C