Canonical Allele Identifier: CA10583040

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 240202
• ClinVar RCV Id: RCV000227266 ; RCV002487076
• dbSNP Id: rs878854783
• MyVariant Identifiers: chr12:g.22035744T>C (hg19) ; chr12:g.21882810T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21882810T>C , CM000674.2:g.21882810T>C	GRCh38
NC_000012.11:g.22035744T>C , CM000674.1:g.22035744T>C	GRCh37
NC_000012.10:g.21927011T>C	NCBI36
NG_012819.1:g.58885A>G , LRG_377:g.58885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.1975A>G	ENSP00000261201.4:p.Thr659Ala
ENST00000682068.1:c.1975A>G	ENSP00000507226.1:p.Thr659Ala
ENST00000682789.1:n.2226A>G
ENST00000682879.1:c.*1076A>G	ENSP00000508210.1:n.*1076A>G
ENST00000683105.1:c.1975A>G	ENSP00000506801.1:p.Thr659Ala
ENST00000683676.1:c.1975A>G	ENSP00000508167.1:p.Thr659Ala
ENST00000684084.1:c.1975A>G	ENSP00000507859.1:p.Thr659Ala
ENST00000684543.1:n.2320A>G
ENST00000261200.9:c.1975A>G MANE Select	ENSP00000261200.4:p.Thr659Ala
ENST00000261201.9:c.1975A>G	ENSP00000261201.4:p.Thr659Ala
ENST00000261200.8:c.1975A>G	ENSP00000261200.4:p.Thr659Ala
ENST00000261201.8:c.1975A>G	ENSP00000261201.4:p.Thr659Ala
ENST00000544039.5:c.900+5016A>G	ENSP00000440521.1:n.900+5016A>G
NM_005691.3:c.1975A>G	NP_005682.2:p.Thr659Ala
NM_020297.3:c.1975A>G	NP_064693.2:p.Thr659Ala
XM_005253284.2:c.1975A>G	XP_005253341.1:p.Thr659Ala
XM_005253286.2:c.1975A>G	XP_005253343.1:p.Thr659Ala
XM_005253287.3:c.1975A>G	XP_005253344.1:p.Thr659Ala
XM_005253288.2:c.1975A>G	XP_005253345.1:p.Thr659Ala
XM_005253289.2:c.1975A>G	XP_005253346.1:p.Thr659Ala
XM_005253290.2:c.1975A>G	XP_005253347.1:p.Thr659Ala
XM_006719025.2:c.1975A>G	XP_006719088.1:p.Thr659Ala
XM_011520545.1:c.1975A>G	XP_011518847.1:p.Thr659Ala
XM_005253284.4:c.1975A>G	XP_005253341.1:p.Thr659Ala
XM_005253286.4:c.1975A>G	XP_005253343.1:p.Thr659Ala
XM_005253287.5:c.1975A>G	XP_005253344.1:p.Thr659Ala
XM_005253288.4:c.1975A>G	XP_005253345.1:p.Thr659Ala
XM_005253289.4:c.1975A>G	XP_005253346.1:p.Thr659Ala
XM_005253290.4:c.1975A>G	XP_005253347.1:p.Thr659Ala
XM_006719025.4:c.1975A>G	XP_006719088.1:p.Thr659Ala
XM_011520545.3:c.1975A>G	XP_011518847.1:p.Thr659Ala
NM_001377273.1:c.1975A>G	NP_001364202.1:p.Thr659Ala
NM_001377274.1:c.1111A>G	NP_001364203.1:p.Thr371Ala
NM_005691.4:c.1975A>G	NP_005682.2:p.Thr659Ala
NM_020297.4:c.1975A>G MANE Select	NP_064693.2:p.Thr659Ala