Canonical Allele Identifier: CA752830308

Gene: MYH9

Linked Data

• dbSNP Id: rs1410281666
• gnomAD v4: 22-36281930-G-T
• MyVariant Identifiers: chr22:g.36677976G>T (hg19) ; chr22:g.36281930G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36281930G>T , CM000684.2:g.36281930G>T	GRCh38
NC_000022.10:g.36677976G>T , CM000684.1:g.36677976G>T	GRCh37
NC_000022.9:g.35007922G>T	NCBI36
NG_011884.2:g.111089C>A , LRG_567:g.111089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.3054C>A
ENST00000685801.1:c.*738C>A	ENSP00000510688.1:n.*738C>A
ENST00000690244.1:n.1957C>A
ENST00000691109.1:n.6916C>A
ENST00000216181.11:c.*738C>A MANE Select	ENSP00000216181.6:n.*738C>A
ENST00000216181.9:c.*738C>A	ENSP00000216181.5:n.*738C>A
NM_002473.5:c.*738C>A , LRG_567t1:c.*738C>A	NP_002464.1:n.*738C>A
XM_011530197.1:c.*738C>A	XP_011528499.1:n.*738C>A
XM_011530197.2:c.*738C>A	XP_011528499.1:n.*738C>A
XM_017028803.1:c.*738C>A	XP_016884292.1:n.*738C>A
XM_017028804.1:c.*738C>A	XP_016884293.1:n.*738C>A
XM_017028805.1:c.*738C>A	XP_016884294.1:n.*738C>A
XM_017028806.1:c.*738C>A	XP_016884295.1:n.*738C>A
NM_002473.6:c.*738C>A MANE Select	NP_002464.1:n.*738C>A