Canonical Allele Identifier: CA384139803

Gene: ABCC9

Linked Data

• gnomAD v4: 12-21908097-C-T
• MyVariant Identifiers: chr12:g.22061031C>T (hg19) ; chr12:g.21908097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21908097C>T , CM000674.2:g.21908097C>T	GRCh38
NC_000012.11:g.22061031C>T , CM000674.1:g.22061031C>T	GRCh37
NC_000012.10:g.21952298C>T	NCBI36
NG_012819.1:g.33598G>A , LRG_377:g.33598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.1435G>A	ENSP00000261201.4:p.Glu479Lys
ENST00000682068.1:c.1435G>A	ENSP00000507226.1:p.Glu479Lys
ENST00000682789.1:n.1686G>A
ENST00000682879.1:c.*536G>A	ENSP00000508210.1:n.*536G>A
ENST00000683105.1:c.1435G>A	ENSP00000506801.1:p.Glu479Lys
ENST00000683676.1:c.1435G>A	ENSP00000508167.1:p.Glu479Lys
ENST00000684084.1:c.1435G>A	ENSP00000507859.1:p.Glu479Lys
ENST00000684543.1:n.1780G>A
ENST00000261200.9:c.1435G>A MANE Select	ENSP00000261200.4:p.Glu479Lys
ENST00000261201.9:c.1435G>A	ENSP00000261201.4:p.Glu479Lys
ENST00000261200.8:c.1435G>A	ENSP00000261200.4:p.Glu479Lys
ENST00000261201.8:c.1435G>A	ENSP00000261201.4:p.Glu479Lys
ENST00000544039.5:c.424G>A	ENSP00000440521.1:p.Glu142Lys
NM_005691.3:c.1435G>A	NP_005682.2:p.Glu479Lys
NM_020297.3:c.1435G>A	NP_064693.2:p.Glu479Lys
XM_005253284.2:c.1435G>A	XP_005253341.1:p.Glu479Lys
XM_005253286.2:c.1435G>A	XP_005253343.1:p.Glu479Lys
XM_005253287.3:c.1435G>A	XP_005253344.1:p.Glu479Lys
XM_005253288.2:c.1435G>A	XP_005253345.1:p.Glu479Lys
XM_005253289.2:c.1435G>A	XP_005253346.1:p.Glu479Lys
XM_005253290.2:c.1435G>A	XP_005253347.1:p.Glu479Lys
XM_006719025.2:c.1435G>A	XP_006719088.1:p.Glu479Lys
XM_011520545.1:c.1435G>A	XP_011518847.1:p.Glu479Lys
XM_005253284.4:c.1435G>A	XP_005253341.1:p.Glu479Lys
XM_005253286.4:c.1435G>A	XP_005253343.1:p.Glu479Lys
XM_005253287.5:c.1435G>A	XP_005253344.1:p.Glu479Lys
XM_005253288.4:c.1435G>A	XP_005253345.1:p.Glu479Lys
XM_005253289.4:c.1435G>A	XP_005253346.1:p.Glu479Lys
XM_005253290.4:c.1435G>A	XP_005253347.1:p.Glu479Lys
XM_006719025.4:c.1435G>A	XP_006719088.1:p.Glu479Lys
XM_011520545.3:c.1435G>A	XP_011518847.1:p.Glu479Lys
NM_001377273.1:c.1435G>A	NP_001364202.1:p.Glu479Lys
NM_001377274.1:c.571G>A	NP_001364203.1:p.Glu191Lys
NM_005691.4:c.1435G>A	NP_005682.2:p.Glu479Lys
NM_020297.4:c.1435G>A MANE Select	NP_064693.2:p.Glu479Lys