Canonical Allele Identifier: CA6480818
Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 856369
dbSNP Id: rs72559751

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21805287C>T , CM000674.2:g.21805287C>T GRCh38
NC_000012.11:g.21958221C>T , CM000674.1:g.21958221C>T GRCh37
NC_000012.10:g.21849488C>T NCBI36
NG_012819.1:g.136408G>A , LRG_377:g.136408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261201.10:c.4537G>A ENSP00000261201.4:p.Ala1513Thr
ENST00000682426.1:n.2089+711G>A
ENST00000682879.1:c.*3610+711G>A ENSP00000508210.1:n.*3610+711G>A
ENST00000683105.1:c.*536+711G>A ENSP00000506801.1:n.*536+711G>A
ENST00000683676.1:c.4212-6149G>A ENSP00000508167.1:n.4212-6149G>A
ENST00000683695.1:n.977+711G>A
ENST00000684084.1:c.4461+711G>A ENSP00000507859.1:n.4461+711G>A
ENST00000261200.9:c.4512+711G>A MANE Select ENSP00000261200.4:n.4512+711G>A
ENST00000261201.9:c.4537G>A ENSP00000261201.4:p.Ala1513Thr
ENST00000261200.8:c.4512+711G>A ENSP00000261200.4:n.4512+711G>A
ENST00000261201.8:c.4537G>A ENSP00000261201.4:p.Ala1513Thr
ENST00000544039.5:c.3418G>A ENSP00000440521.1:p.Ala1140Thr
NM_005691.3:c.4537G>A NP_005682.2:p.Ala1513Thr
NM_020297.3:c.4512+711G>A NP_064693.2:n.4512+711G>A
XM_005253284.2:c.4512+711G>A XP_005253341.1:n.4512+711G>A
XM_005253286.2:c.4512+711G>A XP_005253343.1:n.4512+711G>A
XM_005253287.3:c.4537G>A XP_005253344.1:p.Ala1513Thr
XM_005253288.2:c.4512+711G>A XP_005253345.1:n.4512+711G>A
XM_005253289.2:c.4473+711G>A XP_005253346.1:n.4473+711G>A
XM_005253290.2:c.4371+711G>A XP_005253347.1:n.4371+711G>A
XM_006719025.2:c.4498G>A XP_006719088.1:p.Ala1500Thr
XM_011520545.1:c.4512+711G>A XP_011518847.1:n.4512+711G>A
XR_931420.1:n.632-21923C>T
XR_931421.1:n.632-21923C>T
XR_931422.1:n.306-21923C>T
XM_005253284.4:c.4512+711G>A XP_005253341.1:n.4512+711G>A
XM_005253286.4:c.4512+711G>A XP_005253343.1:n.4512+711G>A
XM_005253287.5:c.4537G>A XP_005253344.1:p.Ala1513Thr
XM_005253288.4:c.4512+711G>A XP_005253345.1:n.4512+711G>A
XM_005253289.4:c.4473+711G>A XP_005253346.1:n.4473+711G>A
XM_005253290.4:c.4371+711G>A XP_005253347.1:n.4371+711G>A
XM_006719025.4:c.4498G>A XP_006719088.1:p.Ala1500Thr
XM_011520545.3:c.4512+711G>A XP_011518847.1:n.4512+711G>A
XR_931420.3:n.632-21923C>T
XR_931422.2:n.318-21923C>T
NM_001377273.1:c.4512+711G>A NP_001364202.1:n.4512+711G>A
NM_001377274.1:c.3645+711G>A NP_001364203.1:n.3645+711G>A
NM_005691.4:c.4537G>A NP_005682.2:p.Ala1513Thr
NM_020297.4:c.4512+711G>A MANE Select NP_064693.2:n.4512+711G>A