Canonical Allele Identifier: CA233625346

Gene: ABCC9

Linked Data

• dbSNP Id: rs749597050
• gnomAD v2: 12-22086834-C-T
• gnomAD v4: 12-21933900-C-T
• MyVariant Identifiers: chr12:g.22086834C>T (hg19) ; chr12:g.21933900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21933900C>T , CM000674.2:g.21933900C>T	GRCh38
NC_000012.11:g.22086834C>T , CM000674.1:g.22086834C>T	GRCh37
NC_000012.10:g.21978101C>T	NCBI36
NG_012819.1:g.7795G>A , LRG_377:g.7795G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.166G>A	ENSP00000261201.4:p.Val56Ile
ENST00000621589.2:c.166G>A	ENSP00000480233.1:p.Val56Ile
ENST00000682068.1:c.166G>A	ENSP00000507226.1:p.Val56Ile
ENST00000682646.1:n.422G>A
ENST00000682789.1:n.417G>A
ENST00000682879.1:c.166G>A	ENSP00000508210.1:p.Val56Ile
ENST00000683105.1:c.166G>A	ENSP00000506801.1:p.Val56Ile
ENST00000683676.1:c.166G>A	ENSP00000508167.1:p.Val56Ile
ENST00000684084.1:c.166G>A	ENSP00000507859.1:p.Val56Ile
ENST00000684435.1:c.166G>A	ENSP00000507779.1:p.Val56Ile
ENST00000684543.1:n.511G>A
ENST00000261200.9:c.166G>A MANE Select	ENSP00000261200.4:p.Val56Ile
ENST00000261201.9:c.166G>A	ENSP00000261201.4:p.Val56Ile
ENST00000636888.1:c.166G>A	ENSP00000490640.1:p.Val56Ile
ENST00000261200.8:c.166G>A	ENSP00000261200.4:p.Val56Ile
ENST00000261201.8:c.166G>A	ENSP00000261201.4:p.Val56Ile
ENST00000326684.8:c.166G>A	ENSP00000317518.4:p.Val56Ile
ENST00000538350.5:c.166G>A	ENSP00000442604.1:p.Val56Ile
ENST00000621589.1:c.166G>A	ENSP00000480233.1:p.Val56Ile
NM_005691.3:c.166G>A	NP_005682.2:p.Val56Ile
NM_020297.3:c.166G>A	NP_064693.2:p.Val56Ile
XM_005253284.2:c.166G>A	XP_005253341.1:p.Val56Ile
XM_005253286.2:c.166G>A	XP_005253343.1:p.Val56Ile
XM_005253287.3:c.166G>A	XP_005253344.1:p.Val56Ile
XM_005253288.2:c.166G>A	XP_005253345.1:p.Val56Ile
XM_005253289.2:c.166G>A	XP_005253346.1:p.Val56Ile
XM_005253290.2:c.166G>A	XP_005253347.1:p.Val56Ile
XM_006719025.2:c.166G>A	XP_006719088.1:p.Val56Ile
XM_011520545.1:c.166G>A	XP_011518847.1:p.Val56Ile
XM_005253284.4:c.166G>A	XP_005253341.1:p.Val56Ile
XM_005253286.4:c.166G>A	XP_005253343.1:p.Val56Ile
XM_005253287.5:c.166G>A	XP_005253344.1:p.Val56Ile
XM_005253288.4:c.166G>A	XP_005253345.1:p.Val56Ile
XM_005253289.4:c.166G>A	XP_005253346.1:p.Val56Ile
XM_005253290.4:c.166G>A	XP_005253347.1:p.Val56Ile
XM_006719025.4:c.166G>A	XP_006719088.1:p.Val56Ile
XM_011520545.3:c.166G>A	XP_011518847.1:p.Val56Ile
NM_001377273.1:c.166G>A	NP_001364202.1:p.Val56Ile
NM_001377274.1:c.-289G>A	NP_001364203.1:n.-289G>A
NM_005691.4:c.166G>A	NP_005682.2:p.Val56Ile
NM_020297.4:c.166G>A MANE Select	NP_064693.2:p.Val56Ile