Canonical Allele Identifier: CA16619501
Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 420904
ClinVar RCV Id: RCV000480387
dbSNP Id: rs1064794780
MyVariant Identifiers: chr12:g.21981905A>C (hg19) chr12:g.21828971A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21828971A>C , CM000674.2:g.21828971A>C GRCh38
NC_000012.11:g.21981905A>C , CM000674.1:g.21981905A>C GRCh37
NC_000012.10:g.21873172A>C NCBI36
NG_012819.1:g.112724T>G , LRG_377:g.112724T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261201.10:c.3656T>G ENSP00000261201.4:p.Leu1219Arg
ENST00000682068.1:c.3656T>G ENSP00000507226.1:p.Leu1219Arg
ENST00000682426.1:n.1233T>G
ENST00000682879.1:c.*2754T>G ENSP00000508210.1:n.*2754T>G
ENST00000683105.1:c.3656T>G ENSP00000506801.1:p.Leu1219Arg
ENST00000683676.1:c.3656T>G ENSP00000508167.1:p.Leu1219Arg
ENST00000683695.1:n.121T>G
ENST00000683811.1:n.3157T>G
ENST00000684084.1:c.3605T>G ENSP00000507859.1:p.Leu1202Arg
ENST00000261200.9:c.3656T>G MANE Select ENSP00000261200.4:p.Leu1219Arg
ENST00000261201.9:c.3656T>G ENSP00000261201.4:p.Leu1219Arg
ENST00000261200.8:c.3656T>G ENSP00000261200.4:p.Leu1219Arg
ENST00000261201.8:c.3656T>G ENSP00000261201.4:p.Leu1219Arg
ENST00000544039.5:c.2537T>G ENSP00000440521.1:p.Leu846Arg
NM_005691.3:c.3656T>G NP_005682.2:p.Leu1219Arg
NM_020297.3:c.3656T>G NP_064693.2:p.Leu1219Arg
XM_005253284.2:c.3656T>G XP_005253341.1:p.Leu1219Arg
XM_005253286.2:c.3656T>G XP_005253343.1:p.Leu1219Arg
XM_005253287.3:c.3656T>G XP_005253344.1:p.Leu1219Arg
XM_005253288.2:c.3656T>G XP_005253345.1:p.Leu1219Arg
XM_005253289.2:c.3617T>G XP_005253346.1:p.Leu1206Arg
XM_005253290.2:c.3515T>G XP_005253347.1:p.Leu1172Arg
XM_006719025.2:c.3617T>G XP_006719088.1:p.Leu1206Arg
XM_011520545.1:c.3656T>G XP_011518847.1:p.Leu1219Arg
XR_931421.1:n.911A>C
XM_005253284.4:c.3656T>G XP_005253341.1:p.Leu1219Arg
XM_005253286.4:c.3656T>G XP_005253343.1:p.Leu1219Arg
XM_005253287.5:c.3656T>G XP_005253344.1:p.Leu1219Arg
XM_005253288.4:c.3656T>G XP_005253345.1:p.Leu1219Arg
XM_005253289.4:c.3617T>G XP_005253346.1:p.Leu1206Arg
XM_005253290.4:c.3515T>G XP_005253347.1:p.Leu1172Arg
XM_006719025.4:c.3617T>G XP_006719088.1:p.Leu1206Arg
XM_011520545.3:c.3656T>G XP_011518847.1:p.Leu1219Arg
XR_931420.3:n.2393A>C
XR_931422.2:n.2079A>C
NM_001377273.1:c.3656T>G NP_001364202.1:p.Leu1219Arg
NM_001377274.1:c.2789T>G NP_001364203.1:p.Leu930Arg
NM_005691.4:c.3656T>G NP_005682.2:p.Leu1219Arg
NM_020297.4:c.3656T>G MANE Select NP_064693.2:p.Leu1219Arg
Search 100 bp 5'
Search 100 bp 3'