Canonical Allele Identifier: CA411402488

Gene: MYH9

Linked Data

• MyVariant Identifiers: chr22:g.36712706A>C (hg19) ; chr22:g.36316661A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36316661A>C , CM000684.2:g.36316661A>C	GRCh38
NC_000022.10:g.36712706A>C , CM000684.1:g.36712706A>C	GRCh37
NC_000022.9:g.35042652A>C	NCBI36
NG_011884.2:g.76358T>G , LRG_567:g.76358T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.1450T>G
ENST00000685801.1:c.1236T>G	ENSP00000510688.1:p.Phe412Leu
ENST00000691109.1:n.1531T>G
ENST00000691687.1:n.2034T>G
ENST00000692930.1:n.1450T>G
ENST00000216181.11:c.1236T>G MANE Select	ENSP00000216181.6:p.Phe412Leu
ENST00000216181.9:c.1236T>G	ENSP00000216181.5:p.Phe412Leu
ENST00000477189.1:n.424T>G
NM_002473.5:c.1236T>G , LRG_567t1:c.1236T>G	NP_002464.1:p.Phe412Leu
XM_011530197.1:c.1236T>G	XP_011528499.1:p.Phe412Leu
XM_011530197.2:c.1236T>G	XP_011528499.1:p.Phe412Leu
XM_017028803.1:c.1236T>G	XP_016884292.1:p.Phe412Leu
XM_017028804.1:c.1236T>G	XP_016884293.1:p.Phe412Leu
XM_017028805.1:c.1236T>G	XP_016884294.1:p.Phe412Leu
XM_017028806.1:c.1236T>G	XP_016884295.1:p.Phe412Leu
NM_002473.6:c.1236T>G MANE Select	NP_002464.1:p.Phe412Leu