Canonical Allele Identifier: CA10209006

Gene: MYH9

Linked Data

• dbSNP Id: rs758034745
• ExAC: 22:36680469 C / T
• gnomAD v2: 22-36680469-C-T
• gnomAD v3: 22-36284423-C-T
• gnomAD v4: 22-36284423-C-T
• MyVariant Identifiers: chr22:g.36680469C>T (hg19) ; chr22:g.36284423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36284423C>T , CM000684.2:g.36284423C>T	GRCh38
NC_000022.10:g.36680469C>T , CM000684.1:g.36680469C>T	GRCh37
NC_000022.9:g.35010415C>T	NCBI36
NG_011884.2:g.108596G>A , LRG_567:g.108596G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2005G>A
ENST00000685801.1:c.5635G>A	ENSP00000510688.1:p.Ala1879Thr
ENST00000690244.1:n.908G>A
ENST00000691109.1:n.5867G>A
ENST00000216181.11:c.5572G>A MANE Select	ENSP00000216181.6:p.Ala1858Thr
ENST00000216181.9:c.5572G>A	ENSP00000216181.5:p.Ala1858Thr
ENST00000475726.5:n.602G>A
ENST00000486218.1:n.579G>A
NM_002473.5:c.5572G>A , LRG_567t1:c.5572G>A	NP_002464.1:p.Ala1858Thr
XM_011530197.1:c.5572G>A	XP_011528499.1:p.Ala1858Thr
XM_011530197.2:c.5572G>A	XP_011528499.1:p.Ala1858Thr
XM_017028803.1:c.5572G>A	XP_016884292.1:p.Ala1858Thr
XM_017028804.1:c.5572G>A	XP_016884293.1:p.Ala1858Thr
XM_017028805.1:c.5572G>A	XP_016884294.1:p.Ala1858Thr
XM_017028806.1:c.5572G>A	XP_016884295.1:p.Ala1858Thr
NM_002473.6:c.5572G>A MANE Select	NP_002464.1:p.Ala1858Thr