Canonical Allele Identifier: CA177069

Gene: MYH9

Linked Data

• ClinVar Variation Id: 164421
• ClinVar RCV Id: RCV000151322 ; RCV000416222 ; RCV001150618 ; RCV001150619 ; RCV001375382
• dbSNP Id: rs138158369
• ExAC: 22:36682799 T / C
• gnomAD v2: 22-36682799-T-C
• gnomAD v3: 22-36286753-T-C
• gnomAD v4: 22-36286753-T-C
• MyVariant Identifiers: chr22:g.36682799T>C (hg19) ; chr22:g.36286753T>C (hg38)
• PubMed: PMID:18059020

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36286753T>C , CM000684.2:g.36286753T>C	GRCh38
NC_000022.10:g.36682799T>C , CM000684.1:g.36682799T>C	GRCh37
NC_000022.9:g.35012745T>C	NCBI36
NG_011884.2:g.106266A>G , LRG_567:g.106266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.1459A>G
ENST00000685801.1:c.5089A>G	ENSP00000510688.1:p.Lys1697Glu
ENST00000691109.1:n.5321A>G
ENST00000216181.11:c.5026A>G MANE Select	ENSP00000216181.6:p.Lys1676Glu
ENST00000216181.9:c.5026A>G	ENSP00000216181.5:p.Lys1676Glu
NM_002473.5:c.5026A>G , LRG_567t1:c.5026A>G	NP_002464.1:p.Lys1676Glu
XM_011530197.1:c.5026A>G	XP_011528499.1:p.Lys1676Glu
XM_011530197.2:c.5026A>G	XP_011528499.1:p.Lys1676Glu
XM_017028803.1:c.5026A>G	XP_016884292.1:p.Lys1676Glu
XM_017028804.1:c.5026A>G	XP_016884293.1:p.Lys1676Glu
XM_017028805.1:c.5026A>G	XP_016884294.1:p.Lys1676Glu
XM_017028806.1:c.5026A>G	XP_016884295.1:p.Lys1676Glu
NM_002473.6:c.5026A>G MANE Select	NP_002464.1:p.Lys1676Glu