Canonical Allele Identifier: CA16603232

Gene: MYH9

Linked Data

• ClinVar Variation Id: 377017
• ClinVar RCV Id: RCV000424167 ; RCV000790339
• dbSNP Id: rs1057520107
• MyVariant Identifiers: chr22:g.36745160A>G (hg19) ; chr22:g.36349115A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36349115A>G , CM000684.2:g.36349115A>G	GRCh38
NC_000022.10:g.36745160A>G , CM000684.1:g.36745160A>G	GRCh37
NC_000022.9:g.35075106A>G	NCBI36
NG_011884.2:g.43904T>C , LRG_567:g.43904T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.336T>C
ENST00000685191.1:n.345T>C
ENST00000685801.1:c.122T>C	ENSP00000510688.1:p.Phe41Ser
ENST00000688137.1:c.122T>C	ENSP00000510189.1:p.Phe41Ser
ENST00000691296.1:c.122T>C	ENSP00000509816.1:p.Phe41Ser
ENST00000691687.1:n.336T>C
ENST00000692930.1:n.336T>C
ENST00000216181.11:c.122T>C MANE Select	ENSP00000216181.6:p.Phe41Ser
ENST00000216181.9:c.122T>C	ENSP00000216181.5:p.Phe41Ser
ENST00000401701.1:c.122T>C	ENSP00000384631.1:p.Phe41Ser
ENST00000456729.1:c.122T>C	ENSP00000414852.1:p.Phe41Ser
NM_002473.5:c.122T>C , LRG_567t1:c.122T>C	NP_002464.1:p.Phe41Ser
XM_011530197.1:c.122T>C	XP_011528499.1:p.Phe41Ser
XM_011530197.2:c.122T>C	XP_011528499.1:p.Phe41Ser
XM_017028803.1:c.122T>C	XP_016884292.1:p.Phe41Ser
XM_017028804.1:c.122T>C	XP_016884293.1:p.Phe41Ser
XM_017028805.1:c.122T>C	XP_016884294.1:p.Phe41Ser
XM_017028806.1:c.122T>C	XP_016884295.1:p.Phe41Ser
NM_002473.6:c.122T>C MANE Select	NP_002464.1:p.Phe41Ser