Canonical Allele Identifier: CA384121676

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 1764474
• ClinVar RCV Id: RCV002373501
• gnomAD v4: 12-21913011-C-G
• MyVariant Identifiers: chr12:g.22065945C>G (hg19) ; chr12:g.21913011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21913011C>G , CM000674.2:g.21913011C>G	GRCh38
NC_000012.11:g.22065945C>G , CM000674.1:g.22065945C>G	GRCh37
NC_000012.10:g.21957212C>G	NCBI36
NG_012819.1:g.28684G>C , LRG_377:g.28684G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.872G>C	ENSP00000261201.4:p.Arg291Thr
ENST00000682068.1:c.872G>C	ENSP00000507226.1:p.Arg291Thr
ENST00000682789.1:n.1123G>C
ENST00000682879.1:c.462G>C	ENSP00000508210.1:p.Gln154His
ENST00000683105.1:c.872G>C	ENSP00000506801.1:p.Arg291Thr
ENST00000683676.1:c.872G>C	ENSP00000508167.1:p.Arg291Thr
ENST00000684084.1:c.872G>C	ENSP00000507859.1:p.Arg291Thr
ENST00000684543.1:n.1217G>C
ENST00000261200.9:c.872G>C MANE Select	ENSP00000261200.4:p.Arg291Thr
ENST00000261201.9:c.872G>C	ENSP00000261201.4:p.Arg291Thr
ENST00000261200.8:c.872G>C	ENSP00000261200.4:p.Arg291Thr
ENST00000261201.8:c.872G>C	ENSP00000261201.4:p.Arg291Thr
NM_005691.3:c.872G>C	NP_005682.2:p.Arg291Thr
NM_020297.3:c.872G>C	NP_064693.2:p.Arg291Thr
XM_005253284.2:c.872G>C	XP_005253341.1:p.Arg291Thr
XM_005253286.2:c.872G>C	XP_005253343.1:p.Arg291Thr
XM_005253287.3:c.872G>C	XP_005253344.1:p.Arg291Thr
XM_005253288.2:c.872G>C	XP_005253345.1:p.Arg291Thr
XM_005253289.2:c.872G>C	XP_005253346.1:p.Arg291Thr
XM_005253290.2:c.872G>C	XP_005253347.1:p.Arg291Thr
XM_006719025.2:c.872G>C	XP_006719088.1:p.Arg291Thr
XM_011520545.1:c.872G>C	XP_011518847.1:p.Arg291Thr
XM_005253284.4:c.872G>C	XP_005253341.1:p.Arg291Thr
XM_005253286.4:c.872G>C	XP_005253343.1:p.Arg291Thr
XM_005253287.5:c.872G>C	XP_005253344.1:p.Arg291Thr
XM_005253288.4:c.872G>C	XP_005253345.1:p.Arg291Thr
XM_005253289.4:c.872G>C	XP_005253346.1:p.Arg291Thr
XM_005253290.4:c.872G>C	XP_005253347.1:p.Arg291Thr
XM_006719025.4:c.872G>C	XP_006719088.1:p.Arg291Thr
XM_011520545.3:c.872G>C	XP_011518847.1:p.Arg291Thr
NM_001377273.1:c.872G>C	NP_001364202.1:p.Arg291Thr
NM_001377274.1:c.8G>C	NP_001364203.1:p.Arg3Thr
NM_005691.4:c.872G>C	NP_005682.2:p.Arg291Thr
NM_020297.4:c.872G>C MANE Select	NP_064693.2:p.Arg291Thr