Canonical Allele Identifier: CA182324

Gene: MYH9

Linked Data

• ClinVar Variation Id: 178433
• ClinVar RCV Id: RCV000155181 ; RCV001731400 ; RCV004534986
• dbSNP Id: rs376396278
• ExAC: 22:36689534 G / T
• gnomAD v2: 22-36689534-G-T
• gnomAD v3: 22-36293488-G-T
• gnomAD v4: 22-36293488-G-T
• MyVariant Identifiers: chr22:g.36689534G>T (hg19) ; chr22:g.36293488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36293488G>T , CM000684.2:g.36293488G>T	GRCh38
NC_000022.10:g.36689534G>T , CM000684.1:g.36689534G>T	GRCh37
NC_000022.9:g.35019480G>T	NCBI36
NG_011884.2:g.99531C>A , LRG_567:g.99531C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.4006-7C>A	ENSP00000510688.1:n.4006-7C>A
ENST00000691109.1:n.4238-7C>A
ENST00000216181.11:c.3943-7C>A MANE Select	ENSP00000216181.6:n.3943-7C>A
ENST00000216181.9:c.3943-7C>A	ENSP00000216181.5:n.3943-7C>A
NM_002473.5:c.3943-7C>A , LRG_567t1:c.3943-7C>A	NP_002464.1:n.3943-7C>A
XM_011530197.1:c.3943-7C>A	XP_011528499.1:n.3943-7C>A
XM_011530197.2:c.3943-7C>A	XP_011528499.1:n.3943-7C>A
XM_017028803.1:c.3943-7C>A	XP_016884292.1:n.3943-7C>A
XM_017028804.1:c.3943-7C>A	XP_016884293.1:n.3943-7C>A
XM_017028805.1:c.3943-7C>A	XP_016884294.1:n.3943-7C>A
XM_017028806.1:c.3943-7C>A	XP_016884295.1:n.3943-7C>A
NM_002473.6:c.3943-7C>A MANE Select	NP_002464.1:n.3943-7C>A