Canonical Allele Identifier: CA752830313

Gene: MYH9

Linked Data

• dbSNP Id: rs12107
• gnomAD v3: 22-36281936-G-T
• gnomAD v4: 22-36281936-G-T
• MyVariant Identifiers: chr22:g.36677982G>T (hg19) ; chr22:g.36281936G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36281936G>T , CM000684.2:g.36281936G>T	GRCh38
NC_000022.10:g.36677982G>T , CM000684.1:g.36677982G>T	GRCh37
NC_000022.9:g.35007928G>T	NCBI36
NG_011884.2:g.111083C>A , LRG_567:g.111083C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000685708.1:n.3048C>A
ENST00000685801.1:c.*732C>A	ENSP00000510688.1:n.*732C>A
ENST00000690244.1:n.1951C>A
ENST00000691109.1:n.6910C>A
ENST00000216181.11:c.*732C>A MANE Select	ENSP00000216181.6:n.*732C>A
ENST00000216181.9:c.*732C>A	ENSP00000216181.5:n.*732C>A
NM_002473.5:c.*732C>A , LRG_567t1:c.*732C>A	NP_002464.1:n.*732C>A
XM_011530197.1:c.*732C>A	XP_011528499.1:n.*732C>A
XM_011530197.2:c.*732C>A	XP_011528499.1:n.*732C>A
XM_017028803.1:c.*732C>A	XP_016884292.1:n.*732C>A
XM_017028804.1:c.*732C>A	XP_016884293.1:n.*732C>A
XM_017028805.1:c.*732C>A	XP_016884294.1:n.*732C>A
XM_017028806.1:c.*732C>A	XP_016884295.1:n.*732C>A
NM_002473.6:c.*732C>A MANE Select	NP_002464.1:n.*732C>A