Canonical Allele Identifier: CA177078

Gene: MYH9

Linked Data

• ClinVar Variation Id: 164431
• ClinVar RCV Id: RCV000151325 ; RCV000727282 ; RCV002483309 ; RCV004532678
• dbSNP Id: rs138193963
• ExAC: 22:36685132 C / T
• gnomAD v2: 22-36685132-C-T
• gnomAD v3: 22-36289086-C-T
• gnomAD v4: 22-36289086-C-T
• MyVariant Identifiers: chr22:g.36685132C>T (hg19) ; chr22:g.36289086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36289086C>T , CM000684.2:g.36289086C>T	GRCh38
NC_000022.10:g.36685132C>T , CM000684.1:g.36685132C>T	GRCh37
NC_000022.9:g.35015078C>T	NCBI36
NG_011884.2:g.103933G>A , LRG_567:g.103933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.4619G>A	ENSP00000510688.1:p.Ser1540Asn
ENST00000691109.1:n.4851G>A
ENST00000216181.11:c.4556G>A MANE Select	ENSP00000216181.6:p.Ser1519Asn
ENST00000216181.9:c.4556G>A	ENSP00000216181.5:p.Ser1519Asn
NM_002473.5:c.4556G>A , LRG_567t1:c.4556G>A	NP_002464.1:p.Ser1519Asn
XM_011530197.1:c.4556G>A	XP_011528499.1:p.Ser1519Asn
XM_011530197.2:c.4556G>A	XP_011528499.1:p.Ser1519Asn
XM_017028803.1:c.4556G>A	XP_016884292.1:p.Ser1519Asn
XM_017028804.1:c.4556G>A	XP_016884293.1:p.Ser1519Asn
XM_017028805.1:c.4556G>A	XP_016884294.1:p.Ser1519Asn
XM_017028806.1:c.4556G>A	XP_016884295.1:p.Ser1519Asn
NM_002473.6:c.4556G>A MANE Select	NP_002464.1:p.Ser1519Asn