Canonical Allele Identifier: CA323964030

Gene: MYH9

Linked Data

• dbSNP Id: rs925409744
• gnomAD v2: 22-36751045-C-G
• MyVariant Identifiers: chr22:g.36751045C>G (hg19) ; chr22:g.36751045_36751047delinsGAG (hg19) ; chr22:g.36355000C>G (hg38) ; chr22:g.36355000_36355002delinsGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36355000C>G , CM000684.2:g.36355000C>G	GRCh38
NC_000022.10:g.36751045C>G , CM000684.1:g.36751045C>G	GRCh37
NC_000022.9:g.35080991C>G	NCBI36
NG_011884.2:g.38019G>C , LRG_567:g.38019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.196-5745G>C
ENST00000685191.1:n.205-5745G>C
ENST00000685801.1:c.-19-5745G>C	ENSP00000510688.1:n.-19-5745G>C
ENST00000688137.1:c.-19-5745G>C	ENSP00000510189.1:n.-19-5745G>C
ENST00000691296.1:c.-19-5745G>C	ENSP00000509816.1:n.-19-5745G>C
ENST00000691687.1:n.196-5745G>C
ENST00000692930.1:n.196-5745G>C
ENST00000216181.11:c.-19-5745G>C MANE Select	ENSP00000216181.6:n.-19-5745G>C
ENST00000216181.9:c.-19-5745G>C	ENSP00000216181.5:n.-19-5745G>C
ENST00000401701.1:c.-19-5745G>C	ENSP00000384631.1:n.-19-5745G>C
ENST00000456729.1:c.-19-5745G>C	ENSP00000414852.1:n.-19-5745G>C
NM_002473.5:c.-19-5745G>C , LRG_567t1:c.-19-5745G>C	NP_002464.1:n.-19-5745G>C
XM_011530197.1:c.-19-5745G>C	XP_011528499.1:n.-19-5745G>C
XM_011530197.2:c.-19-5745G>C	XP_011528499.1:n.-19-5745G>C
XM_017028803.1:c.-19-5745G>C	XP_016884292.1:n.-19-5745G>C
XM_017028804.1:c.-19-5745G>C	XP_016884293.1:n.-19-5745G>C
XM_017028806.1:c.-19-5745G>C	XP_016884295.1:n.-19-5745G>C
NM_002473.6:c.-19-5745G>C MANE Select	NP_002464.1:n.-19-5745G>C