Canonical Allele Identifier: CA752830459

Gene: MYH9

Linked Data

• dbSNP Id: rs1423532566
• gnomAD v4: 22-36282055-T-C
• MyVariant Identifiers: chr22:g.36678101T>C (hg19) ; chr22:g.36282055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282055T>C , CM000684.2:g.36282055T>C	GRCh38
NC_000022.10:g.36678101T>C , CM000684.1:g.36678101T>C	GRCh37
NC_000022.9:g.35008047T>C	NCBI36
NG_011884.2:g.110964A>G , LRG_567:g.110964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2929A>G
ENST00000685801.1:c.*613A>G	ENSP00000510688.1:n.*613A>G
ENST00000690244.1:n.1832A>G
ENST00000691109.1:n.6791A>G
ENST00000216181.11:c.*613A>G MANE Select	ENSP00000216181.6:n.*613A>G
ENST00000216181.9:c.*613A>G	ENSP00000216181.5:n.*613A>G
NM_002473.5:c.*613A>G , LRG_567t1:c.*613A>G	NP_002464.1:n.*613A>G
XM_011530197.1:c.*613A>G	XP_011528499.1:n.*613A>G
XM_011530197.2:c.*613A>G	XP_011528499.1:n.*613A>G
XM_017028803.1:c.*613A>G	XP_016884292.1:n.*613A>G
XM_017028804.1:c.*613A>G	XP_016884293.1:n.*613A>G
XM_017028805.1:c.*613A>G	XP_016884294.1:n.*613A>G
XM_017028806.1:c.*613A>G	XP_016884295.1:n.*613A>G
NM_002473.6:c.*613A>G MANE Select	NP_002464.1:n.*613A>G