Canonical Allele Identifier: CA14985526
Gene: MYH9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1244672
ClinVar RCV Id: RCV001648880
dbSNP Id: rs2032487

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36299382C>T , CM000684.2:g.36299382C>T GRCh38
NC_000022.10:g.36695428C>T , CM000684.1:g.36695428C>T GRCh37
NC_000022.9:g.35025374C>T NCBI36
NG_011884.2:g.93637G>A , LRG_567:g.93637G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000685801.1:c.3040-340G>A ENSP00000510688.1:n.3040-340G>A
ENST00000691109.1:n.3272-340G>A
ENST00000216181.11:c.2977-340G>A MANE Select ENSP00000216181.6:n.2977-340G>A
ENST00000216181.9:c.2977-340G>A ENSP00000216181.5:n.2977-340G>A
NM_002473.5:c.2977-340G>A , LRG_567t1:c.2977-340G>A NP_002464.1:n.2977-340G>A
XM_011530197.1:c.2977-340G>A XP_011528499.1:n.2977-340G>A
XM_011530197.2:c.2977-340G>A XP_011528499.1:n.2977-340G>A
XM_017028803.1:c.2977-340G>A XP_016884292.1:n.2977-340G>A
XM_017028804.1:c.2977-340G>A XP_016884293.1:n.2977-340G>A
XM_017028805.1:c.2977-340G>A XP_016884294.1:n.2977-340G>A
XM_017028806.1:c.2977-340G>A XP_016884295.1:n.2977-340G>A
NM_002473.6:c.2977-340G>A MANE Select NP_002464.1:n.2977-340G>A