Canonical Allele Identifier: CA177160

Gene: MYH9

Linked Data

• ClinVar Variation Id: 164466
• ClinVar RCV Id: RCV000151357 ; RCV002055991 ; RCV004532682
• dbSNP Id: rs200059134
• ExAC: 22:36723540 C / T
• gnomAD v2: 22-36723540-C-T
• gnomAD v3: 22-36327495-C-T
• gnomAD v4: 22-36327495-C-T
• MyVariant Identifiers: chr22:g.36723540C>T (hg19) ; chr22:g.36327495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36327495C>T , CM000684.2:g.36327495C>T	GRCh38
NC_000022.10:g.36723540C>T , CM000684.1:g.36723540C>T	GRCh37
NC_000022.9:g.35053486C>T	NCBI36
NG_011884.2:g.65524G>A , LRG_567:g.65524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.705-7G>A
ENST00000685191.1:n.714-7G>A
ENST00000685801.1:c.491-7G>A	ENSP00000510688.1:n.491-7G>A
ENST00000688137.1:c.491-7G>A	ENSP00000510189.1:n.491-7G>A
ENST00000691296.1:c.491-7G>A	ENSP00000509816.1:n.491-7G>A
ENST00000691687.1:n.705-7G>A
ENST00000692930.1:n.705-7G>A
ENST00000216181.11:c.491-7G>A MANE Select	ENSP00000216181.6:n.491-7G>A
ENST00000216181.9:c.491-7G>A	ENSP00000216181.5:n.491-7G>A
ENST00000401701.1:c.491-7G>A	ENSP00000384631.1:n.491-7G>A
ENST00000463027.1:n.95-7G>A
NM_002473.5:c.491-7G>A , LRG_567t1:c.491-7G>A	NP_002464.1:n.491-7G>A
XM_011530197.1:c.491-7G>A	XP_011528499.1:n.491-7G>A
XM_011530197.2:c.491-7G>A	XP_011528499.1:n.491-7G>A
XM_017028803.1:c.491-7G>A	XP_016884292.1:n.491-7G>A
XM_017028804.1:c.491-7G>A	XP_016884293.1:n.491-7G>A
XM_017028805.1:c.491-7G>A	XP_016884294.1:n.491-7G>A
XM_017028806.1:c.491-7G>A	XP_016884295.1:n.491-7G>A
NM_002473.6:c.491-7G>A MANE Select	NP_002464.1:n.491-7G>A