Canonical Allele Identifier: CA10210363

Gene: MYH9

Linked Data

• ClinVar Variation Id: 341529
• ClinVar RCV Id: RCV000319014 ; RCV000375903 ; RCV003727704
• dbSNP Id: rs767088377
• ExAC: 22:36714329 C / T
• gnomAD v2: 22-36714329-C-T
• gnomAD v3: 22-36318284-C-T
• gnomAD v4: 22-36318284-C-T
• COSMIC: COSM3405645
• MyVariant Identifiers: chr22:g.36714329C>T (hg19) ; chr22:g.36318284C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36318284C>T , CM000684.2:g.36318284C>T	GRCh38
NC_000022.10:g.36714329C>T , CM000684.1:g.36714329C>T	GRCh37
NC_000022.9:g.35044275C>T	NCBI36
NG_011884.2:g.74735G>A , LRG_567:g.74735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.1364G>A
ENST00000685801.1:c.1150G>A	ENSP00000510688.1:p.Asp384Asn
ENST00000687820.1:n.74G>A
ENST00000691109.1:n.1445G>A
ENST00000691687.1:n.1948G>A
ENST00000692930.1:n.1364G>A
ENST00000216181.11:c.1150G>A MANE Select	ENSP00000216181.6:p.Asp384Asn
ENST00000216181.9:c.1150G>A	ENSP00000216181.5:p.Asp384Asn
ENST00000477189.1:n.338G>A
NM_002473.5:c.1150G>A , LRG_567t1:c.1150G>A	NP_002464.1:p.Asp384Asn
XM_011530197.1:c.1150G>A	XP_011528499.1:p.Asp384Asn
XM_011530197.2:c.1150G>A	XP_011528499.1:p.Asp384Asn
XM_017028803.1:c.1150G>A	XP_016884292.1:p.Asp384Asn
XM_017028804.1:c.1150G>A	XP_016884293.1:p.Asp384Asn
XM_017028805.1:c.1150G>A	XP_016884294.1:p.Asp384Asn
XM_017028806.1:c.1150G>A	XP_016884295.1:p.Asp384Asn
NM_002473.6:c.1150G>A MANE Select	NP_002464.1:p.Asp384Asn