Canonical Allele Identifier: CA136256
Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 45400
dbSNP Id: rs397517187

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21872674C>T , CM000674.2:g.21872674C>T GRCh38
NC_000012.11:g.22025608C>T , CM000674.1:g.22025608C>T GRCh37
NC_000012.10:g.21916875C>T NCBI36
NG_012819.1:g.69021G>A , LRG_377:g.69021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261201.10:c.2149G>A ENSP00000261201.4:p.Ala717Thr
ENST00000682068.1:c.2149G>A ENSP00000507226.1:p.Ala717Thr
ENST00000682879.1:c.*1250G>A ENSP00000508210.1:n.*1250G>A
ENST00000683105.1:c.2149G>A ENSP00000506801.1:p.Ala717Thr
ENST00000683676.1:c.2149G>A ENSP00000508167.1:p.Ala717Thr
ENST00000684084.1:c.2149G>A ENSP00000507859.1:p.Ala717Thr
ENST00000684543.1:n.2494G>A
ENST00000261200.9:c.2149G>A MANE Select ENSP00000261200.4:p.Ala717Thr
ENST00000261201.9:c.2149G>A ENSP00000261201.4:p.Ala717Thr
ENST00000261200.8:c.2149G>A ENSP00000261200.4:p.Ala717Thr
ENST00000261201.8:c.2149G>A ENSP00000261201.4:p.Ala717Thr
ENST00000544039.5:c.1030G>A ENSP00000440521.1:p.Ala344Thr
NM_005691.3:c.2149G>A NP_005682.2:p.Ala717Thr
NM_020297.3:c.2149G>A NP_064693.2:p.Ala717Thr
XM_005253284.2:c.2149G>A XP_005253341.1:p.Ala717Thr
XM_005253286.2:c.2149G>A XP_005253343.1:p.Ala717Thr
XM_005253287.3:c.2149G>A XP_005253344.1:p.Ala717Thr
XM_005253288.2:c.2149G>A XP_005253345.1:p.Ala717Thr
XM_005253289.2:c.2149G>A XP_005253346.1:p.Ala717Thr
XM_005253290.2:c.2149G>A XP_005253347.1:p.Ala717Thr
XM_006719025.2:c.2149G>A XP_006719088.1:p.Ala717Thr
XM_011520545.1:c.2149G>A XP_011518847.1:p.Ala717Thr
XM_005253284.4:c.2149G>A XP_005253341.1:p.Ala717Thr
XM_005253286.4:c.2149G>A XP_005253343.1:p.Ala717Thr
XM_005253287.5:c.2149G>A XP_005253344.1:p.Ala717Thr
XM_005253288.4:c.2149G>A XP_005253345.1:p.Ala717Thr
XM_005253289.4:c.2149G>A XP_005253346.1:p.Ala717Thr
XM_005253290.4:c.2149G>A XP_005253347.1:p.Ala717Thr
XM_006719025.4:c.2149G>A XP_006719088.1:p.Ala717Thr
XM_011520545.3:c.2149G>A XP_011518847.1:p.Ala717Thr
NM_001377273.1:c.2149G>A NP_001364202.1:p.Ala717Thr
NM_001377274.1:c.1285G>A NP_001364203.1:p.Ala429Thr
NM_005691.4:c.2149G>A NP_005682.2:p.Ala717Thr
NM_020297.4:c.2149G>A MANE Select NP_064693.2:p.Ala717Thr