Canonical Allele Identifier: CA2403794890

Gene: MYH9

Linked Data

• dbSNP Id: rs2016495246
• gnomAD v4: 22-36281885-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36281885G>C , CM000684.2:g.36281885G>C	GRCh38
NC_000022.10:g.36677931G>C , CM000684.1:g.36677931G>C	GRCh37
NC_000022.9:g.35007877G>C	NCBI36
NG_011884.2:g.111134C>G , LRG_567:g.111134C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.3099C>G
ENST00000685801.1:c.*783C>G	ENSP00000510688.1:n.*783C>G
ENST00000690244.1:n.2002C>G
ENST00000691109.1:n.6961C>G
ENST00000216181.11:c.*783C>G MANE Select	ENSP00000216181.6:n.*783C>G
ENST00000216181.9:c.*783C>G	ENSP00000216181.5:n.*783C>G
NM_002473.5:c.*783C>G , LRG_567t1:c.*783C>G	NP_002464.1:n.*783C>G
XM_011530197.1:c.*783C>G	XP_011528499.1:n.*783C>G
XM_011530197.2:c.*783C>G	XP_011528499.1:n.*783C>G
XM_017028803.1:c.*783C>G	XP_016884292.1:n.*783C>G
XM_017028804.1:c.*783C>G	XP_016884293.1:n.*783C>G
XM_017028805.1:c.*783C>G	XP_016884294.1:n.*783C>G
XM_017028806.1:c.*783C>G	XP_016884295.1:n.*783C>G
NM_002473.6:c.*783C>G MANE Select	NP_002464.1:n.*783C>G