Canonical Allele Identifier: CA384128721

Gene: ABCC9

Linked Data

• gnomAD v4: 12-21805186-C-T
• COSMIC: COSM1299225
• MyVariant Identifiers: chr12:g.21958120C>T (hg19) ; chr12:g.21805186C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805186C>T , CM000674.2:g.21805186C>T	GRCh38
NC_000012.11:g.21958120C>T , CM000674.1:g.21958120C>T	GRCh37
NC_000012.10:g.21849387C>T	NCBI36
NG_012819.1:g.136509G>A , LRG_377:g.136509G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.4638G>A	ENSP00000261201.4:p.Met1546Ile
ENST00000682426.1:n.2089+812G>A
ENST00000682879.1:c.*3610+812G>A	ENSP00000508210.1:n.*3610+812G>A
ENST00000683105.1:c.*536+812G>A	ENSP00000506801.1:n.*536+812G>A
ENST00000683676.1:c.4212-6048G>A	ENSP00000508167.1:n.4212-6048G>A
ENST00000683695.1:n.977+812G>A
ENST00000684084.1:c.4461+812G>A	ENSP00000507859.1:n.4461+812G>A
ENST00000261200.9:c.4512+812G>A MANE Select	ENSP00000261200.4:n.4512+812G>A
ENST00000261201.9:c.4638G>A	ENSP00000261201.4:p.Met1546Ile
ENST00000261200.8:c.4512+812G>A	ENSP00000261200.4:n.4512+812G>A
ENST00000261201.8:c.4638G>A	ENSP00000261201.4:p.Met1546Ile
ENST00000544039.5:c.3519G>A	ENSP00000440521.1:p.Met1173Ile
NM_005691.3:c.4638G>A	NP_005682.2:p.Met1546Ile
NM_020297.3:c.4512+812G>A	NP_064693.2:n.4512+812G>A
XM_005253284.2:c.4512+812G>A	XP_005253341.1:n.4512+812G>A
XM_005253286.2:c.4512+812G>A	XP_005253343.1:n.4512+812G>A
XM_005253287.3:c.4638G>A	XP_005253344.1:p.Met1546Ile
XM_005253288.2:c.4512+812G>A	XP_005253345.1:n.4512+812G>A
XM_005253289.2:c.4473+812G>A	XP_005253346.1:n.4473+812G>A
XM_005253290.2:c.4371+812G>A	XP_005253347.1:n.4371+812G>A
XM_006719025.2:c.4599G>A	XP_006719088.1:p.Met1533Ile
XM_011520545.1:c.4512+812G>A	XP_011518847.1:n.4512+812G>A
XR_931420.1:n.632-22024C>T
XR_931421.1:n.632-22024C>T
XR_931422.1:n.306-22024C>T
XM_005253284.4:c.4512+812G>A	XP_005253341.1:n.4512+812G>A
XM_005253286.4:c.4512+812G>A	XP_005253343.1:n.4512+812G>A
XM_005253287.5:c.4638G>A	XP_005253344.1:p.Met1546Ile
XM_005253288.4:c.4512+812G>A	XP_005253345.1:n.4512+812G>A
XM_005253289.4:c.4473+812G>A	XP_005253346.1:n.4473+812G>A
XM_005253290.4:c.4371+812G>A	XP_005253347.1:n.4371+812G>A
XM_006719025.4:c.4599G>A	XP_006719088.1:p.Met1533Ile
XM_011520545.3:c.4512+812G>A	XP_011518847.1:n.4512+812G>A
XR_931420.3:n.632-22024C>T
XR_931422.2:n.318-22024C>T
NM_001377273.1:c.4512+812G>A	NP_001364202.1:n.4512+812G>A
NM_001377274.1:c.3645+812G>A	NP_001364203.1:n.3645+812G>A
NM_005691.4:c.4638G>A	NP_005682.2:p.Met1546Ile
NM_020297.4:c.4512+812G>A MANE Select	NP_064693.2:n.4512+812G>A