Canonical Allele Identifier: CA10210511

Gene: MYH9

Linked Data

• ClinVar Variation Id: 227619
• ClinVar RCV Id: RCV002057118 ; RCV002494559
• dbSNP Id: rs142552338
• ExAC: 22:36718460 G / A
• gnomAD v2: 22-36718460-G-A
• gnomAD v3: 22-36322415-G-A
• gnomAD v4: 22-36322415-G-A
• MyVariant Identifiers: chr22:g.36718460G>A (hg19) ; chr22:g.36322415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36322415G>A , CM000684.2:g.36322415G>A	GRCh38
NC_000022.10:g.36718460G>A , CM000684.1:g.36718460G>A	GRCh37
NC_000022.9:g.35048406G>A	NCBI36
NG_011884.2:g.70604C>T , LRG_567:g.70604C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000685187.1:n.919+14C>T
ENST00000685191.1:n.928+14C>T
ENST00000685801.1:c.705+14C>T	ENSP00000510688.1:n.705+14C>T
ENST00000691109.1:n.566+14C>T
ENST00000691687.1:n.919+14C>T
ENST00000692930.1:n.919+14C>T
ENST00000216181.11:c.705+14C>T MANE Select	ENSP00000216181.6:n.705+14C>T
ENST00000216181.9:c.705+14C>T	ENSP00000216181.5:n.705+14C>T
ENST00000463027.1:n.309+14C>T
NM_002473.5:c.705+14C>T , LRG_567t1:c.705+14C>T	NP_002464.1:n.705+14C>T
XM_011530197.1:c.705+14C>T	XP_011528499.1:n.705+14C>T
XM_011530197.2:c.705+14C>T	XP_011528499.1:n.705+14C>T
XM_017028803.1:c.705+14C>T	XP_016884292.1:n.705+14C>T
XM_017028804.1:c.705+14C>T	XP_016884293.1:n.705+14C>T
XM_017028805.1:c.705+14C>T	XP_016884294.1:n.705+14C>T
XM_017028806.1:c.705+14C>T	XP_016884295.1:n.705+14C>T
NM_002473.6:c.705+14C>T MANE Select	NP_002464.1:n.705+14C>T