Canonical Allele Identifier: CA411395240
Community Standard Title: NM_002473.6(MYH9):c.2403G>C (p.Lys801Asn)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36302664C>G , CM000684.2:g.36302664C>G GRCh38
NC_000022.10:g.36698710C>G , CM000684.1:g.36698710C>G GRCh37
NC_000022.9:g.35028656C>G NCBI36
NG_011884.2:g.90355G>C , LRG_567:g.90355G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.2403G>C MANE Select NP_002464.1:p.Lys801Asn
ENST00000216181.11:c.2403G>C MANE Select ENSP00000216181.6:p.Lys801Asn
NM_002473.5:c.2403G>C , LRG_567t1:c.2403G>C NP_002464.1:p.Lys801Asn
ENST00000216181.9:c.2403G>C ENSP00000216181.5:p.Lys801Asn
ENST00000473022.1:n.44G>C
ENST00000685801.1:c.2466G>C ENSP00000510688.1:p.Lys822Asn
ENST00000691109.1:n.2698G>C
XM_011530197.1:c.2403G>C XP_011528499.1:p.Lys801Asn
XM_011530197.2:c.2403G>C XP_011528499.1:p.Lys801Asn
XM_017028803.1:c.2403G>C XP_016884292.1:p.Lys801Asn
XM_017028804.1:c.2403G>C XP_016884293.1:p.Lys801Asn
XM_017028805.1:c.2403G>C XP_016884294.1:p.Lys801Asn
XM_017028806.1:c.2403G>C XP_016884295.1:p.Lys801Asn