Canonical Allele Identifier: CA2617929097

Gene: ABCC9

Linked Data

• gnomAD v4: 12-21805028-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805028G>T , CM000674.2:g.21805028G>T	GRCh38
NC_000012.11:g.21957962G>T , CM000674.1:g.21957962G>T	GRCh37
NC_000012.10:g.21849229G>T	NCBI36
NG_012819.1:g.136667C>A , LRG_377:g.136667C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.*38+108C>A	ENSP00000261201.4:n.*38+108C>A
ENST00000682426.1:n.2089+970C>A
ENST00000682879.1:c.*3610+970C>A	ENSP00000508210.1:n.*3610+970C>A
ENST00000683105.1:c.*536+970C>A	ENSP00000506801.1:n.*536+970C>A
ENST00000683676.1:c.4212-5890C>A	ENSP00000508167.1:n.4212-5890C>A
ENST00000683695.1:n.977+970C>A
ENST00000684084.1:c.4461+970C>A	ENSP00000507859.1:n.4461+970C>A
ENST00000261200.9:c.4512+970C>A MANE Select	ENSP00000261200.4:n.4512+970C>A
ENST00000261201.9:c.4688+108C>A	ENSP00000261201.4:n.4688+108C>A
ENST00000261200.8:c.4512+970C>A	ENSP00000261200.4:n.4512+970C>A
NM_020297.3:c.4512+970C>A	NP_064693.2:n.4512+970C>A
XM_005253284.2:c.4512+970C>A	XP_005253341.1:n.4512+970C>A
XM_005253286.2:c.4512+970C>A	XP_005253343.1:n.4512+970C>A
XM_005253287.3:c.*38+108C>A	XP_005253344.1:n.*38+108C>A
XM_005253288.2:c.4512+970C>A	XP_005253345.1:n.4512+970C>A
XM_005253289.2:c.4473+970C>A	XP_005253346.1:n.4473+970C>A
XM_005253290.2:c.4371+970C>A	XP_005253347.1:n.4371+970C>A
XM_006719025.2:c.*38+108C>A	XP_006719088.1:n.*38+108C>A
XM_011520545.1:c.4512+970C>A	XP_011518847.1:n.4512+970C>A
XR_931420.1:n.632-22182G>T
XR_931421.1:n.632-22182G>T
XR_931422.1:n.306-22182G>T
XM_005253284.4:c.4512+970C>A	XP_005253341.1:n.4512+970C>A
XM_005253286.4:c.4512+970C>A	XP_005253343.1:n.4512+970C>A
XM_005253287.5:c.*38+108C>A	XP_005253344.1:n.*38+108C>A
XM_005253288.4:c.4512+970C>A	XP_005253345.1:n.4512+970C>A
XM_005253289.4:c.4473+970C>A	XP_005253346.1:n.4473+970C>A
XM_005253290.4:c.4371+970C>A	XP_005253347.1:n.4371+970C>A
XM_006719025.4:c.*38+108C>A	XP_006719088.1:n.*38+108C>A
XM_011520545.3:c.4512+970C>A	XP_011518847.1:n.4512+970C>A
XR_931420.3:n.632-22182G>T
XR_931422.2:n.318-22182G>T
NM_001377273.1:c.4512+970C>A	NP_001364202.1:n.4512+970C>A
NM_001377274.1:c.3645+970C>A	NP_001364203.1:n.3645+970C>A
NM_005691.4:c.*38+108C>A	NP_005682.2:n.*38+108C>A
NM_020297.4:c.4512+970C>A MANE Select	NP_064693.2:n.4512+970C>A