Canonical Allele Identifier: CA639148286

Gene: MYH9

Linked Data

• dbSNP Id: rs1266757448
• gnomAD v2: 22-36678216-G-A
• gnomAD v4: 22-36282170-G-A
• MyVariant Identifiers: chr22:g.36678216G>A (hg19) ; chr22:g.36282170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282170G>A , CM000684.2:g.36282170G>A	GRCh38
NC_000022.10:g.36678216G>A , CM000684.1:g.36678216G>A	GRCh37
NC_000022.9:g.35008162G>A	NCBI36
NG_011884.2:g.110849C>T , LRG_567:g.110849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2814C>T
ENST00000685801.1:c.*498C>T	ENSP00000510688.1:n.*498C>T
ENST00000690244.1:n.1717C>T
ENST00000691109.1:n.6676C>T
ENST00000216181.11:c.*498C>T MANE Select	ENSP00000216181.6:n.*498C>T
ENST00000216181.9:c.*498C>T	ENSP00000216181.5:n.*498C>T
NM_002473.5:c.*498C>T , LRG_567t1:c.*498C>T	NP_002464.1:n.*498C>T
XM_011530197.1:c.*498C>T	XP_011528499.1:n.*498C>T
XM_011530197.2:c.*498C>T	XP_011528499.1:n.*498C>T
XM_017028803.1:c.*498C>T	XP_016884292.1:n.*498C>T
XM_017028804.1:c.*498C>T	XP_016884293.1:n.*498C>T
XM_017028805.1:c.*498C>T	XP_016884294.1:n.*498C>T
XM_017028806.1:c.*498C>T	XP_016884295.1:n.*498C>T
NM_002473.6:c.*498C>T MANE Select	NP_002464.1:n.*498C>T