Canonical Allele Identifier: CA323605827

Gene: MYH9

Linked Data

• dbSNP Id: rs767440614
• gnomAD v2: 22-36712651-G-A
• gnomAD v3: 22-36316606-G-A
• gnomAD v4: 22-36316606-G-A
• MyVariant Identifiers: chr22:g.36712651G>A (hg19) ; chr22:g.36316606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36316606G>A , CM000684.2:g.36316606G>A	GRCh38
NC_000022.10:g.36712651G>A , CM000684.1:g.36712651G>A	GRCh37
NC_000022.9:g.35042597G>A	NCBI36
NG_011884.2:g.76413C>T , LRG_567:g.76413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.1505C>T
ENST00000685801.1:c.1291C>T	ENSP00000510688.1:p.Leu431=
ENST00000691109.1:n.1586C>T
ENST00000691687.1:n.2089C>T
ENST00000692930.1:n.1505C>T
ENST00000216181.11:c.1291C>T MANE Select	ENSP00000216181.6:p.Leu431=
ENST00000216181.9:c.1291C>T	ENSP00000216181.5:p.Leu431=
ENST00000477189.1:n.479C>T
NM_002473.5:c.1291C>T , LRG_567t1:c.1291C>T	NP_002464.1:p.Leu431=
XM_011530197.1:c.1291C>T	XP_011528499.1:p.Leu431=
XM_011530197.2:c.1291C>T	XP_011528499.1:p.Leu431=
XM_017028803.1:c.1291C>T	XP_016884292.1:p.Leu431=
XM_017028804.1:c.1291C>T	XP_016884293.1:p.Leu431=
XM_017028805.1:c.1291C>T	XP_016884294.1:p.Leu431=
XM_017028806.1:c.1291C>T	XP_016884295.1:p.Leu431=
NM_002473.6:c.1291C>T MANE Select	NP_002464.1:p.Leu431=