Canonical Allele Identifier: CA384118568
Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507972
ClinVar RCV Id: RCV002040296
dbSNP Id: rs1358997583

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21844833A>G , CM000674.2:g.21844833A>G GRCh38
NC_000012.11:g.21997767A>G , CM000674.1:g.21997767A>G GRCh37
NC_000012.10:g.21889034A>G NCBI36
NG_012819.1:g.96862T>C , LRG_377:g.96862T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261201.10:c.3179T>C ENSP00000261201.4:p.Met1060Thr
ENST00000682068.1:c.3179T>C ENSP00000507226.1:p.Met1060Thr
ENST00000682426.1:n.756T>C
ENST00000682879.1:c.*2277T>C ENSP00000508210.1:n.*2277T>C
ENST00000683105.1:c.3179T>C ENSP00000506801.1:p.Met1060Thr
ENST00000683676.1:c.3179T>C ENSP00000508167.1:p.Met1060Thr
ENST00000683811.1:n.2680T>C
ENST00000684084.1:c.3128T>C ENSP00000507859.1:p.Met1043Thr
ENST00000261200.9:c.3179T>C MANE Select ENSP00000261200.4:p.Met1060Thr
ENST00000261201.9:c.3179T>C ENSP00000261201.4:p.Met1060Thr
ENST00000261200.8:c.3179T>C ENSP00000261200.4:p.Met1060Thr
ENST00000261201.8:c.3179T>C ENSP00000261201.4:p.Met1060Thr
ENST00000544039.5:c.2060T>C ENSP00000440521.1:p.Met687Thr
NM_005691.3:c.3179T>C NP_005682.2:p.Met1060Thr
NM_020297.3:c.3179T>C NP_064693.2:p.Met1060Thr
XM_005253284.2:c.3179T>C XP_005253341.1:p.Met1060Thr
XM_005253286.2:c.3179T>C XP_005253343.1:p.Met1060Thr
XM_005253287.3:c.3179T>C XP_005253344.1:p.Met1060Thr
XM_005253288.2:c.3179T>C XP_005253345.1:p.Met1060Thr
XM_005253289.2:c.3140T>C XP_005253346.1:p.Met1047Thr
XM_005253290.2:c.3038T>C XP_005253347.1:p.Met1013Thr
XM_006719025.2:c.3140T>C XP_006719088.1:p.Met1047Thr
XM_011520545.1:c.3179T>C XP_011518847.1:p.Met1060Thr
XM_005253284.4:c.3179T>C XP_005253341.1:p.Met1060Thr
XM_005253286.4:c.3179T>C XP_005253343.1:p.Met1060Thr
XM_005253287.5:c.3179T>C XP_005253344.1:p.Met1060Thr
XM_005253288.4:c.3179T>C XP_005253345.1:p.Met1060Thr
XM_005253289.4:c.3140T>C XP_005253346.1:p.Met1047Thr
XM_005253290.4:c.3038T>C XP_005253347.1:p.Met1013Thr
XM_006719025.4:c.3140T>C XP_006719088.1:p.Met1047Thr
XM_011520545.3:c.3179T>C XP_011518847.1:p.Met1060Thr
NM_001377273.1:c.3179T>C NP_001364202.1:p.Met1060Thr
NM_001377274.1:c.2312T>C NP_001364203.1:p.Met771Thr
NM_005691.4:c.3179T>C NP_005682.2:p.Met1060Thr
NM_020297.4:c.3179T>C MANE Select NP_064693.2:p.Met1060Thr