Canonical Allele Identifier: CA323584789

Gene: MYH9

Linked Data

• dbSNP Id: rs116572976
• gnomAD v3: 22-36282079-C-G
• gnomAD v4: 22-36282079-C-G
• MyVariant Identifiers: chr22:g.36678125C>G (hg19) ; chr22:g.36282079C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282079C>G , CM000684.2:g.36282079C>G	GRCh38
NC_000022.10:g.36678125C>G , CM000684.1:g.36678125C>G	GRCh37
NC_000022.9:g.35008071C>G	NCBI36
NG_011884.2:g.110940G>C , LRG_567:g.110940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2905G>C
ENST00000685801.1:c.*589G>C	ENSP00000510688.1:n.*589G>C
ENST00000690244.1:n.1808G>C
ENST00000691109.1:n.6767G>C
ENST00000216181.11:c.*589G>C MANE Select	ENSP00000216181.6:n.*589G>C
ENST00000216181.9:c.*589G>C	ENSP00000216181.5:n.*589G>C
NM_002473.5:c.*589G>C , LRG_567t1:c.*589G>C	NP_002464.1:n.*589G>C
XM_011530197.1:c.*589G>C	XP_011528499.1:n.*589G>C
XM_011530197.2:c.*589G>C	XP_011528499.1:n.*589G>C
XM_017028803.1:c.*589G>C	XP_016884292.1:n.*589G>C
XM_017028804.1:c.*589G>C	XP_016884293.1:n.*589G>C
XM_017028805.1:c.*589G>C	XP_016884294.1:n.*589G>C
XM_017028806.1:c.*589G>C	XP_016884295.1:n.*589G>C
NM_002473.6:c.*589G>C MANE Select	NP_002464.1:n.*589G>C