Canonical Allele Identifier: CA10209004

Gene: MYH9

Linked Data

• dbSNP Id: rs778668519
• ExAC: 22:36680441 G / A
• gnomAD v2: 22-36680441-G-A
• gnomAD v3: 22-36284395-G-A
• gnomAD v4: 22-36284395-G-A
• MyVariant Identifiers: chr22:g.36680441G>A (hg19) ; chr22:g.36284395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36284395G>A , CM000684.2:g.36284395G>A	GRCh38
NC_000022.10:g.36680441G>A , CM000684.1:g.36680441G>A	GRCh37
NC_000022.9:g.35010387G>A	NCBI36
NG_011884.2:g.108624C>T , LRG_567:g.108624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2025+8C>T
ENST00000685801.1:c.5655+8C>T	ENSP00000510688.1:n.5655+8C>T
ENST00000690244.1:n.928+8C>T
ENST00000691109.1:n.5887+8C>T
ENST00000216181.11:c.5592+8C>T MANE Select	ENSP00000216181.6:n.5592+8C>T
ENST00000216181.9:c.5592+8C>T	ENSP00000216181.5:n.5592+8C>T
ENST00000475726.5:n.622+8C>T
ENST00000486218.1:n.607C>T
NM_002473.5:c.5592+8C>T , LRG_567t1:c.5592+8C>T	NP_002464.1:n.5592+8C>T
XM_011530197.1:c.5592+8C>T	XP_011528499.1:n.5592+8C>T
XM_011530197.2:c.5592+8C>T	XP_011528499.1:n.5592+8C>T
XM_017028803.1:c.5592+8C>T	XP_016884292.1:n.5592+8C>T
XM_017028804.1:c.5592+8C>T	XP_016884293.1:n.5592+8C>T
XM_017028805.1:c.5592+8C>T	XP_016884294.1:n.5592+8C>T
XM_017028806.1:c.5592+8C>T	XP_016884295.1:n.5592+8C>T
NM_002473.6:c.5592+8C>T MANE Select	NP_002464.1:n.5592+8C>T