Canonical Allele Identifier: CA16607204
Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 383474
ClinVar RCV Id: RCV000441926
dbSNP Id: rs1057521640
MyVariant Identifiers: chr12:g.22013951T>A (hg19) chr12:g.21861017T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21861017T>A , CM000674.2:g.21861017T>A GRCh38
NC_000012.11:g.22013951T>A , CM000674.1:g.22013951T>A GRCh37
NC_000012.10:g.21905218T>A NCBI36
NG_012819.1:g.80678A>T , LRG_377:g.80678A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261201.10:c.2378A>T ENSP00000261201.4:p.Asp793Val
ENST00000682068.1:c.2378A>T ENSP00000507226.1:p.Asp793Val
ENST00000682879.1:c.*1476A>T ENSP00000508210.1:n.*1476A>T
ENST00000683105.1:c.2378A>T ENSP00000506801.1:p.Asp793Val
ENST00000683676.1:c.2378A>T ENSP00000508167.1:p.Asp793Val
ENST00000684084.1:c.2378A>T ENSP00000507859.1:p.Asp793Val
ENST00000684543.1:n.2684A>T
ENST00000261200.9:c.2378A>T MANE Select ENSP00000261200.4:p.Asp793Val
ENST00000261201.9:c.2378A>T ENSP00000261201.4:p.Asp793Val
ENST00000261200.8:c.2378A>T ENSP00000261200.4:p.Asp793Val
ENST00000261201.8:c.2378A>T ENSP00000261201.4:p.Asp793Val
ENST00000544039.5:c.1259A>T ENSP00000440521.1:p.Asp420Val
NM_005691.3:c.2378A>T NP_005682.2:p.Asp793Val
NM_020297.3:c.2378A>T NP_064693.2:p.Asp793Val
XM_005253284.2:c.2378A>T XP_005253341.1:p.Asp793Val
XM_005253286.2:c.2378A>T XP_005253343.1:p.Asp793Val
XM_005253287.3:c.2378A>T XP_005253344.1:p.Asp793Val
XM_005253288.2:c.2378A>T XP_005253345.1:p.Asp793Val
XM_005253289.2:c.2339A>T XP_005253346.1:p.Asp780Val
XM_005253290.2:c.2237A>T XP_005253347.1:p.Asp746Val
XM_006719025.2:c.2339A>T XP_006719088.1:p.Asp780Val
XM_011520545.1:c.2378A>T XP_011518847.1:p.Asp793Val
XM_005253284.4:c.2378A>T XP_005253341.1:p.Asp793Val
XM_005253286.4:c.2378A>T XP_005253343.1:p.Asp793Val
XM_005253287.5:c.2378A>T XP_005253344.1:p.Asp793Val
XM_005253288.4:c.2378A>T XP_005253345.1:p.Asp793Val
XM_005253289.4:c.2339A>T XP_005253346.1:p.Asp780Val
XM_005253290.4:c.2237A>T XP_005253347.1:p.Asp746Val
XM_006719025.4:c.2339A>T XP_006719088.1:p.Asp780Val
XM_011520545.3:c.2378A>T XP_011518847.1:p.Asp793Val
NM_001377273.1:c.2378A>T NP_001364202.1:p.Asp793Val
NM_001377274.1:c.1511A>T NP_001364203.1:p.Asp504Val
NM_005691.4:c.2378A>T NP_005682.2:p.Asp793Val
NM_020297.4:c.2378A>T MANE Select NP_064693.2:p.Asp793Val
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