Canonical Allele Identifier: CA514369419

Gene: MYH9

Linked Data

• MyVariant Identifiers: chr22:g.36712706A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.1450T>C
ENST00000685801.1:c.1236T>C	ENSP00000510688.1:p.Phe412=
ENST00000691109.1:n.1531T>C
ENST00000691687.1:n.2034T>C
ENST00000692930.1:n.1450T>C
ENST00000216181.11:c.1236T>C MANE Select	ENSP00000216181.6:p.Phe412=
ENST00000216181.9:c.1236T>C	ENSP00000216181.5:p.Phe412=
ENST00000477189.1:n.424T>C
NM_002473.5:c.1236T>C , LRG_567t1:c.1236T>C	NP_002464.1:p.Phe412=
XM_011530197.1:c.1236T>C	XP_011528499.1:p.Phe412=
XM_011530197.2:c.1236T>C	XP_011528499.1:p.Phe412=
XM_017028803.1:c.1236T>C	XP_016884292.1:p.Phe412=
XM_017028804.1:c.1236T>C	XP_016884293.1:p.Phe412=
XM_017028805.1:c.1236T>C	XP_016884294.1:p.Phe412=
XM_017028806.1:c.1236T>C	XP_016884295.1:p.Phe412=
NM_002473.6:c.1236T>C MANE Select	NP_002464.1:p.Phe412=