Canonical Allele Identifier: CA351874

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 222474
• ClinVar RCV Id: RCV000208244
• dbSNP Id: rs869025347
• COSMIC: COSM2156634 ; COSM2156635
• MyVariant Identifiers: chr12:g.21997448C>T (hg19) ; chr12:g.21844514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21844514C>T , CM000674.2:g.21844514C>T	GRCh38
NC_000012.11:g.21997448C>T , CM000674.1:g.21997448C>T	GRCh37
NC_000012.10:g.21888715C>T	NCBI36
NG_012819.1:g.97181G>A , LRG_377:g.97181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.3284G>A	ENSP00000261201.4:p.Arg1095His
ENST00000682068.1:c.3284G>A	ENSP00000507226.1:p.Arg1095His
ENST00000682426.1:n.861G>A
ENST00000682879.1:c.*2382G>A	ENSP00000508210.1:n.*2382G>A
ENST00000683105.1:c.3284G>A	ENSP00000506801.1:p.Arg1095His
ENST00000683676.1:c.3284G>A	ENSP00000508167.1:p.Arg1095His
ENST00000683811.1:n.2785G>A
ENST00000684084.1:c.3233G>A	ENSP00000507859.1:p.Arg1078His
ENST00000261200.9:c.3284G>A MANE Select	ENSP00000261200.4:p.Arg1095His
ENST00000261201.9:c.3284G>A	ENSP00000261201.4:p.Arg1095His
ENST00000261200.8:c.3284G>A	ENSP00000261200.4:p.Arg1095His
ENST00000261201.8:c.3284G>A	ENSP00000261201.4:p.Arg1095His
ENST00000544039.5:c.2165G>A	ENSP00000440521.1:p.Arg722His
NM_005691.3:c.3284G>A	NP_005682.2:p.Arg1095His
NM_020297.3:c.3284G>A	NP_064693.2:p.Arg1095His
XM_005253284.2:c.3284G>A	XP_005253341.1:p.Arg1095His
XM_005253286.2:c.3284G>A	XP_005253343.1:p.Arg1095His
XM_005253287.3:c.3284G>A	XP_005253344.1:p.Arg1095His
XM_005253288.2:c.3284G>A	XP_005253345.1:p.Arg1095His
XM_005253289.2:c.3245G>A	XP_005253346.1:p.Arg1082His
XM_005253290.2:c.3143G>A	XP_005253347.1:p.Arg1048His
XM_006719025.2:c.3245G>A	XP_006719088.1:p.Arg1082His
XM_011520545.1:c.3284G>A	XP_011518847.1:p.Arg1095His
XM_005253284.4:c.3284G>A	XP_005253341.1:p.Arg1095His
XM_005253286.4:c.3284G>A	XP_005253343.1:p.Arg1095His
XM_005253287.5:c.3284G>A	XP_005253344.1:p.Arg1095His
XM_005253288.4:c.3284G>A	XP_005253345.1:p.Arg1095His
XM_005253289.4:c.3245G>A	XP_005253346.1:p.Arg1082His
XM_005253290.4:c.3143G>A	XP_005253347.1:p.Arg1048His
XM_006719025.4:c.3245G>A	XP_006719088.1:p.Arg1082His
XM_011520545.3:c.3284G>A	XP_011518847.1:p.Arg1095His
NM_001377273.1:c.3284G>A	NP_001364202.1:p.Arg1095His
NM_001377274.1:c.2417G>A	NP_001364203.1:p.Arg806His
NM_005691.4:c.3284G>A	NP_005682.2:p.Arg1095His
NM_020297.4:c.3284G>A MANE Select	NP_064693.2:p.Arg1095His