Canonical Allele Identifier: CA182329

Gene: MYH9

Linked Data

• ClinVar Variation Id: 178436
• ClinVar RCV Id: RCV000155184 ; RCV000896254 ; RCV001147374 ; RCV001147375
• dbSNP Id: rs138436678
• ExAC: 22:36712700 G / A
• gnomAD v2: 22-36712700-G-A
• gnomAD v3: 22-36316655-G-A
• gnomAD v4: 22-36316655-G-A
• COSMIC: COSM3553957
• MyVariant Identifiers: chr22:g.36712700G>A (hg19) ; chr22:g.36316655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36316655G>A , CM000684.2:g.36316655G>A	GRCh38
NC_000022.10:g.36712700G>A , CM000684.1:g.36712700G>A	GRCh37
NC_000022.9:g.35042646G>A	NCBI36
NG_011884.2:g.76364C>T , LRG_567:g.76364C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000685187.1:n.1456C>T
ENST00000685801.1:c.1242C>T	ENSP00000510688.1:p.Ile414=
ENST00000691109.1:n.1537C>T
ENST00000691687.1:n.2040C>T
ENST00000692930.1:n.1456C>T
ENST00000216181.11:c.1242C>T MANE Select	ENSP00000216181.6:p.Ile414=
ENST00000216181.9:c.1242C>T	ENSP00000216181.5:p.Ile414=
ENST00000477189.1:n.430C>T
NM_002473.5:c.1242C>T , LRG_567t1:c.1242C>T	NP_002464.1:p.Ile414=
XM_011530197.1:c.1242C>T	XP_011528499.1:p.Ile414=
XM_011530197.2:c.1242C>T	XP_011528499.1:p.Ile414=
XM_017028803.1:c.1242C>T	XP_016884292.1:p.Ile414=
XM_017028804.1:c.1242C>T	XP_016884293.1:p.Ile414=
XM_017028805.1:c.1242C>T	XP_016884294.1:p.Ile414=
XM_017028806.1:c.1242C>T	XP_016884295.1:p.Ile414=
NM_002473.6:c.1242C>T MANE Select	NP_002464.1:p.Ile414=