Canonical Allele Identifier: CA384126540

Gene: ABCC9

Linked Data

• MyVariant Identifiers: chr12:g.21954104G>C (hg19) ; chr12:g.21801170G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21801170G>C , CM000674.2:g.21801170G>C	GRCh38
NC_000012.11:g.21954104G>C , CM000674.1:g.21954104G>C	GRCh37
NC_000012.10:g.21845371G>C	NCBI36
NG_012819.1:g.140525C>G , LRG_377:g.140525C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.*50C>G	ENSP00000261201.4:n.*50C>G
ENST00000682426.1:n.2101C>G
ENST00000682879.1:c.*3622C>G	ENSP00000508210.1:n.*3622C>G
ENST00000683105.1:c.*548C>G	ENSP00000506801.1:n.*548C>G
ENST00000683676.1:c.4212-2032C>G	ENSP00000508167.1:n.4212-2032C>G
ENST00000683695.1:n.989C>G
ENST00000684084.1:c.4473C>G	ENSP00000507859.1:p.His1491Gln
ENST00000261200.9:c.4524C>G MANE Select	ENSP00000261200.4:p.His1508Gln
ENST00000261201.9:c.4700C>G	ENSP00000261201.4:n.4700C>G
ENST00000261200.8:c.4524C>G	ENSP00000261200.4:p.His1508Gln
NM_020297.3:c.4524C>G	NP_064693.2:p.His1508Gln
XM_005253284.2:c.4524C>G	XP_005253341.1:p.His1508Gln
XM_005253286.2:c.4524C>G	XP_005253343.1:p.His1508Gln
XM_005253287.3:c.*50C>G	XP_005253344.1:n.*50C>G
XM_005253288.2:c.4524C>G	XP_005253345.1:p.His1508Gln
XM_005253289.2:c.4485C>G	XP_005253346.1:p.His1495Gln
XM_005253290.2:c.4383C>G	XP_005253347.1:p.His1461Gln
XM_006719025.2:c.*50C>G	XP_006719088.1:n.*50C>G
XM_011520545.1:c.4524C>G	XP_011518847.1:p.His1508Gln
XR_931420.1:n.632-26040G>C
XR_931421.1:n.632-26040G>C
XR_931422.1:n.306-26040G>C
XM_005253284.4:c.4524C>G	XP_005253341.1:p.His1508Gln
XM_005253286.4:c.4524C>G	XP_005253343.1:p.His1508Gln
XM_005253287.5:c.*50C>G	XP_005253344.1:n.*50C>G
XM_005253288.4:c.4524C>G	XP_005253345.1:p.His1508Gln
XM_005253289.4:c.4485C>G	XP_005253346.1:p.His1495Gln
XM_005253290.4:c.4383C>G	XP_005253347.1:p.His1461Gln
XM_006719025.4:c.*50C>G	XP_006719088.1:n.*50C>G
XM_011520545.3:c.4524C>G	XP_011518847.1:p.His1508Gln
XR_931420.3:n.632-26040G>C
XR_931422.2:n.318-26040G>C
NM_001377273.1:c.4524C>G	NP_001364202.1:p.His1508Gln
NM_001377274.1:c.3657C>G	NP_001364203.1:p.His1219Gln
NM_005691.4:c.*50C>G	NP_005682.2:n.*50C>G
NM_020297.4:c.4524C>G MANE Select	NP_064693.2:p.His1508Gln