Canonical Allele Identifier: CA257101

Gene: MYH9

Linked Data

• ClinVar Variation Id: 14081
• ClinVar RCV Id: RCV000015132 ; RCV000851738 ; RCV001851865
• dbSNP Id: rs80338827
• gnomAD v2: 22-36702030-C-T
• gnomAD v3: 22-36305984-C-T
• gnomAD v4: 22-36305984-C-T
• MyVariant Identifiers: chr22:g.36702030C>T (hg19) ; chr22:g.36305984C>T (hg38)
• PubMed: PMID:5011389 ; PMID:11590545 ; PMID:11935325 ; PMID:20301740

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36305984C>T , CM000684.2:g.36305984C>T	GRCh38
NC_000022.10:g.36702030C>T , CM000684.1:g.36702030C>T	GRCh37
NC_000022.9:g.35031976C>T	NCBI36
NG_011884.2:g.87035G>A , LRG_567:g.87035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.2168G>A	ENSP00000510688.1:p.Arg723His
ENST00000687922.1:n.441G>A
ENST00000691109.1:n.2400G>A
ENST00000216181.11:c.2105G>A MANE Select	ENSP00000216181.6:p.Arg702His
ENST00000216181.9:c.2105G>A	ENSP00000216181.5:p.Arg702His
NM_002473.5:c.2105G>A , LRG_567t1:c.2105G>A	NP_002464.1:p.Arg702His
XM_011530197.1:c.2105G>A	XP_011528499.1:p.Arg702His
XM_011530197.2:c.2105G>A	XP_011528499.1:p.Arg702His
XM_017028803.1:c.2105G>A	XP_016884292.1:p.Arg702His
XM_017028804.1:c.2105G>A	XP_016884293.1:p.Arg702His
XM_017028805.1:c.2105G>A	XP_016884294.1:p.Arg702His
XM_017028806.1:c.2105G>A	XP_016884295.1:p.Arg702His
NM_002473.6:c.2105G>A MANE Select	NP_002464.1:p.Arg702His