Canonical Allele Identifier: CA384118861

Gene: ABCC9

Linked Data

• dbSNP Id: rs1456377742
• gnomAD v2: 12-21997813-C-A
• gnomAD v4: 12-21844879-C-A
• COSMIC: COSM1628495 ; COSM1628496
• MyVariant Identifiers: chr12:g.21997813C>A (hg19) ; chr12:g.21844879C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21844879C>A , CM000674.2:g.21844879C>A	GRCh38
NC_000012.11:g.21997813C>A , CM000674.1:g.21997813C>A	GRCh37
NC_000012.10:g.21889080C>A	NCBI36
NG_012819.1:g.96816G>T , LRG_377:g.96816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.3133G>T	ENSP00000261201.4:p.Ala1045Ser
ENST00000682068.1:c.3133G>T	ENSP00000507226.1:p.Ala1045Ser
ENST00000682426.1:n.710G>T
ENST00000682879.1:c.*2231G>T	ENSP00000508210.1:n.*2231G>T
ENST00000683105.1:c.3133G>T	ENSP00000506801.1:p.Ala1045Ser
ENST00000683676.1:c.3133G>T	ENSP00000508167.1:p.Ala1045Ser
ENST00000683811.1:n.2634G>T
ENST00000684084.1:c.3082G>T	ENSP00000507859.1:p.Ala1028Ser
ENST00000261200.9:c.3133G>T MANE Select	ENSP00000261200.4:p.Ala1045Ser
ENST00000261201.9:c.3133G>T	ENSP00000261201.4:p.Ala1045Ser
ENST00000261200.8:c.3133G>T	ENSP00000261200.4:p.Ala1045Ser
ENST00000261201.8:c.3133G>T	ENSP00000261201.4:p.Ala1045Ser
ENST00000544039.5:c.2014G>T	ENSP00000440521.1:p.Ala672Ser
NM_005691.3:c.3133G>T	NP_005682.2:p.Ala1045Ser
NM_020297.3:c.3133G>T	NP_064693.2:p.Ala1045Ser
XM_005253284.2:c.3133G>T	XP_005253341.1:p.Ala1045Ser
XM_005253286.2:c.3133G>T	XP_005253343.1:p.Ala1045Ser
XM_005253287.3:c.3133G>T	XP_005253344.1:p.Ala1045Ser
XM_005253288.2:c.3133G>T	XP_005253345.1:p.Ala1045Ser
XM_005253289.2:c.3094G>T	XP_005253346.1:p.Ala1032Ser
XM_005253290.2:c.2992G>T	XP_005253347.1:p.Ala998Ser
XM_006719025.2:c.3094G>T	XP_006719088.1:p.Ala1032Ser
XM_011520545.1:c.3133G>T	XP_011518847.1:p.Ala1045Ser
XM_005253284.4:c.3133G>T	XP_005253341.1:p.Ala1045Ser
XM_005253286.4:c.3133G>T	XP_005253343.1:p.Ala1045Ser
XM_005253287.5:c.3133G>T	XP_005253344.1:p.Ala1045Ser
XM_005253288.4:c.3133G>T	XP_005253345.1:p.Ala1045Ser
XM_005253289.4:c.3094G>T	XP_005253346.1:p.Ala1032Ser
XM_005253290.4:c.2992G>T	XP_005253347.1:p.Ala998Ser
XM_006719025.4:c.3094G>T	XP_006719088.1:p.Ala1032Ser
XM_011520545.3:c.3133G>T	XP_011518847.1:p.Ala1045Ser
NM_001377273.1:c.3133G>T	NP_001364202.1:p.Ala1045Ser
NM_001377274.1:c.2266G>T	NP_001364203.1:p.Ala756Ser
NM_005691.4:c.3133G>T	NP_005682.2:p.Ala1045Ser
NM_020297.4:c.3133G>T MANE Select	NP_064693.2:p.Ala1045Ser