Canonical Allele Identifier: CA411372858
Gene: MYH9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36284415C>G , CM000684.2:g.36284415C>G GRCh38
NC_000022.10:g.36680461C>G , CM000684.1:g.36680461C>G GRCh37
NC_000022.9:g.35010407C>G NCBI36
NG_011884.2:g.108604G>C , LRG_567:g.108604G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.2013G>C
ENST00000685801.1:c.5643G>C ENSP00000510688.1:p.Gln1881His
ENST00000690244.1:n.916G>C
ENST00000691109.1:n.5875G>C
ENST00000216181.11:c.5580G>C MANE Select ENSP00000216181.6:p.Gln1860His
ENST00000216181.9:c.5580G>C ENSP00000216181.5:p.Gln1860His
ENST00000475726.5:n.610G>C
ENST00000486218.1:n.587G>C
NM_002473.5:c.5580G>C , LRG_567t1:c.5580G>C NP_002464.1:p.Gln1860His
XM_011530197.1:c.5580G>C XP_011528499.1:p.Gln1860His
XM_011530197.2:c.5580G>C XP_011528499.1:p.Gln1860His
XM_017028803.1:c.5580G>C XP_016884292.1:p.Gln1860His
XM_017028804.1:c.5580G>C XP_016884293.1:p.Gln1860His
XM_017028805.1:c.5580G>C XP_016884294.1:p.Gln1860His
XM_017028806.1:c.5580G>C XP_016884295.1:p.Gln1860His
NM_002473.6:c.5580G>C MANE Select NP_002464.1:p.Gln1860His