Canonical Allele Identifier: CA411402366

Gene: MYH9

Linked Data

• MyVariant Identifiers: chr22:g.36712674T>G (hg19) ; chr22:g.36316629T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36316629T>G , CM000684.2:g.36316629T>G	GRCh38
NC_000022.10:g.36712674T>G , CM000684.1:g.36712674T>G	GRCh37
NC_000022.9:g.35042620T>G	NCBI36
NG_011884.2:g.76390A>C , LRG_567:g.76390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.1482A>C
ENST00000685801.1:c.1268A>C	ENSP00000510688.1:p.Glu423Ala
ENST00000691109.1:n.1563A>C
ENST00000691687.1:n.2066A>C
ENST00000692930.1:n.1482A>C
ENST00000216181.11:c.1268A>C MANE Select	ENSP00000216181.6:p.Glu423Ala
ENST00000216181.9:c.1268A>C	ENSP00000216181.5:p.Glu423Ala
ENST00000477189.1:n.456A>C
NM_002473.5:c.1268A>C , LRG_567t1:c.1268A>C	NP_002464.1:p.Glu423Ala
XM_011530197.1:c.1268A>C	XP_011528499.1:p.Glu423Ala
XM_011530197.2:c.1268A>C	XP_011528499.1:p.Glu423Ala
XM_017028803.1:c.1268A>C	XP_016884292.1:p.Glu423Ala
XM_017028804.1:c.1268A>C	XP_016884293.1:p.Glu423Ala
XM_017028805.1:c.1268A>C	XP_016884294.1:p.Glu423Ala
XM_017028806.1:c.1268A>C	XP_016884295.1:p.Glu423Ala
NM_002473.6:c.1268A>C MANE Select	NP_002464.1:p.Glu423Ala