Canonical Allele Identifier: CA177111

Gene: MYH9

Linked Data

• ClinVar Variation Id: 164446
• ClinVar RCV Id: RCV000151338 ; RCV000387348 ; RCV000293055 ; RCV000726812 ; RCV002243824
• dbSNP Id: rs151036570
• ExAC: 22:36696277 C / T
• gnomAD v2: 22-36696277-C-T
• gnomAD v3: 22-36300231-C-T
• gnomAD v4: 22-36300231-C-T
• MyVariant Identifiers: chr22:g.36696277C>T (hg19) ; chr22:g.36300231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36300231C>T , CM000684.2:g.36300231C>T	GRCh38
NC_000022.10:g.36696277C>T , CM000684.1:g.36696277C>T	GRCh37
NC_000022.9:g.35026223C>T	NCBI36
NG_011884.2:g.92788G>A , LRG_567:g.92788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.2935G>A	ENSP00000510688.1:p.Ala979Thr
ENST00000691109.1:n.3167G>A
ENST00000216181.11:c.2872G>A MANE Select	ENSP00000216181.6:p.Ala958Thr
ENST00000216181.9:c.2872G>A	ENSP00000216181.5:p.Ala958Thr
NM_002473.5:c.2872G>A , LRG_567t1:c.2872G>A	NP_002464.1:p.Ala958Thr
XM_011530197.1:c.2872G>A	XP_011528499.1:p.Ala958Thr
XM_011530197.2:c.2872G>A	XP_011528499.1:p.Ala958Thr
XM_017028803.1:c.2872G>A	XP_016884292.1:p.Ala958Thr
XM_017028804.1:c.2872G>A	XP_016884293.1:p.Ala958Thr
XM_017028805.1:c.2872G>A	XP_016884294.1:p.Ala958Thr
XM_017028806.1:c.2872G>A	XP_016884295.1:p.Ala958Thr
NM_002473.6:c.2872G>A MANE Select	NP_002464.1:p.Ala958Thr