Canonical Allele Identifier: CA260058

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 31946
• ClinVar RCV Id: RCV000024624 ; RCV000546897 ; RCV001270102 ; RCV001570693 ; RCV004545734
• dbSNP Id: rs387907208
• gnomAD v4: 12-21842327-G-A
• COSMIC: COSM172799 ; COSM1181363
• MyVariant Identifiers: chr12:g.21995261G>A (hg19) ; chr12:g.21842327G>A (hg38)
• PubMed: PMID:22608503 ; PMID:22610116

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21842327G>A , CM000674.2:g.21842327G>A	GRCh38
NC_000012.11:g.21995261G>A , CM000674.1:g.21995261G>A	GRCh37
NC_000012.10:g.21886528G>A	NCBI36
NG_012819.1:g.99368C>T , LRG_377:g.99368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.3460C>T	ENSP00000261201.4:p.Arg1154Trp
ENST00000682068.1:c.3460C>T	ENSP00000507226.1:p.Arg1154Trp
ENST00000682426.1:n.1037C>T
ENST00000682879.1:c.*2558C>T	ENSP00000508210.1:n.*2558C>T
ENST00000683105.1:c.3460C>T	ENSP00000506801.1:p.Arg1154Trp
ENST00000683676.1:c.3460C>T	ENSP00000508167.1:p.Arg1154Trp
ENST00000683811.1:n.2961C>T
ENST00000684084.1:c.3409C>T	ENSP00000507859.1:p.Arg1137Trp
ENST00000261200.9:c.3460C>T MANE Select	ENSP00000261200.4:p.Arg1154Trp
ENST00000261201.9:c.3460C>T	ENSP00000261201.4:p.Arg1154Trp
ENST00000261200.8:c.3460C>T	ENSP00000261200.4:p.Arg1154Trp
ENST00000261201.8:c.3460C>T	ENSP00000261201.4:p.Arg1154Trp
ENST00000544039.5:c.2341C>T	ENSP00000440521.1:p.Arg781Trp
NM_005691.3:c.3460C>T	NP_005682.2:p.Arg1154Trp
NM_020297.3:c.3460C>T	NP_064693.2:p.Arg1154Trp
XM_005253284.2:c.3460C>T	XP_005253341.1:p.Arg1154Trp
XM_005253286.2:c.3460C>T	XP_005253343.1:p.Arg1154Trp
XM_005253287.3:c.3460C>T	XP_005253344.1:p.Arg1154Trp
XM_005253288.2:c.3460C>T	XP_005253345.1:p.Arg1154Trp
XM_005253289.2:c.3421C>T	XP_005253346.1:p.Arg1141Trp
XM_005253290.2:c.3319C>T	XP_005253347.1:p.Arg1107Trp
XM_006719025.2:c.3421C>T	XP_006719088.1:p.Arg1141Trp
XM_011520545.1:c.3460C>T	XP_011518847.1:p.Arg1154Trp
XM_005253284.4:c.3460C>T	XP_005253341.1:p.Arg1154Trp
XM_005253286.4:c.3460C>T	XP_005253343.1:p.Arg1154Trp
XM_005253287.5:c.3460C>T	XP_005253344.1:p.Arg1154Trp
XM_005253288.4:c.3460C>T	XP_005253345.1:p.Arg1154Trp
XM_005253289.4:c.3421C>T	XP_005253346.1:p.Arg1141Trp
XM_005253290.4:c.3319C>T	XP_005253347.1:p.Arg1107Trp
XM_006719025.4:c.3421C>T	XP_006719088.1:p.Arg1141Trp
XM_011520545.3:c.3460C>T	XP_011518847.1:p.Arg1154Trp
NM_001377273.1:c.3460C>T	NP_001364202.1:p.Arg1154Trp
NM_001377274.1:c.2593C>T	NP_001364203.1:p.Arg865Trp
NM_005691.4:c.3460C>T	NP_005682.2:p.Arg1154Trp
NM_020297.4:c.3460C>T MANE Select	NP_064693.2:p.Arg1154Trp