Canonical Allele Identifier: CA379791312

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418590G>T (hg19) ; chr11:g.17397043G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397043G>T , CM000673.2:g.17397043G>T	GRCh38
NC_000011.9:g.17418590G>T , CM000673.1:g.17418590G>T	GRCh37
NC_000011.8:g.17375166G>T	NCBI36
NG_008867.1:g.84860C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3593C>A
ENST00000528374.2:c.583C>A
ENST00000529967.6:n.2331C>A
ENST00000532220.2:n.2240C>A
ENST00000642611.2:n.4207C>A
ENST00000644057.2:n.435C>A
ENST00000645004.2:n.1491C>A
ENST00000682051.1:n.4154C>A
ENST00000682110.1:n.4207C>A
ENST00000682140.1:c.3985+150C>A	ENSP00000507829.1:n.3985+150C>A
ENST00000682185.1:n.5297C>A
ENST00000682204.1:c.*2130C>A	ENSP00000507094.1:n.*2130C>A
ENST00000682215.1:n.4574C>A
ENST00000682288.1:c.*2423C>A	ENSP00000507506.1:n.*2423C>A
ENST00000682442.1:n.4427C>A
ENST00000682528.1:n.4284C>A
ENST00000682673.1:n.4151C>A
ENST00000682805.1:n.4574C>A
ENST00000682965.1:c.*414C>A	ENSP00000508229.1:n.*414C>A
ENST00000683093.1:n.4306C>A
ENST00000683136.1:c.3875C>A	ENSP00000507768.1:p.Pro1292Gln
ENST00000683153.1:n.4249C>A
ENST00000683365.1:n.4309C>A
ENST00000683377.1:n.4207C>A
ENST00000683456.1:c.*1129C>A	ENSP00000508318.1:n.*1129C>A
ENST00000683522.1:n.4207C>A
ENST00000683562.1:c.*2161C>A	ENSP00000508265.1:n.*2161C>A
ENST00000683693.1:n.4654C>A
ENST00000683725.1:c.3992C>A	ENSP00000507496.1:p.Pro1331Gln
ENST00000684010.1:n.4202C>A
ENST00000684157.1:n.4207C>A
ENST00000684253.1:n.4110C>A
ENST00000684288.1:c.*2164C>A	ENSP00000507143.1:n.*2164C>A
ENST00000684313.1:n.3639C>A
ENST00000684332.1:n.4280C>A
ENST00000684371.1:n.4313C>A
ENST00000684404.1:n.4250C>A
ENST00000684442.1:n.4431C>A
ENST00000684555.1:c.*2204C>A	ENSP00000507705.1:n.*2204C>A
ENST00000684571.1:c.3833C>A	ENSP00000506935.1:p.Pro1278Gln
ENST00000684593.1:c.*3697C>A	ENSP00000507005.1:n.*3697C>A
ENST00000684711.1:c.*2388C>A	ENSP00000506841.1:n.*2388C>A
ENST00000302539.9:c.3995C>A	ENSP00000303960.4:p.Pro1332Gln
ENST00000389817.8:c.3992C>A MANE Select	ENSP00000374467.4:p.Pro1331Gln
ENST00000642271.1:c.3989C>A	ENSP00000493749.1:p.Pro1330Gln
ENST00000642579.1:c.2073-27C>A
ENST00000642611.1:n.4092C>A
ENST00000642902.1:c.3774C>A
ENST00000643260.1:c.3992C>A	ENSP00000494450.1:p.Pro1331Gln
ENST00000643562.1:c.*2114C>A	ENSP00000496124.1:n.*2114C>A
ENST00000643925.1:c.2632C>A
ENST00000644057.1:n.69C>A
ENST00000644484.1:c.*2393C>A	ENSP00000493558.1:n.*2393C>A
ENST00000644675.1:c.*2164C>A	ENSP00000494567.1:n.*2164C>A
ENST00000644757.1:c.*2423C>A	ENSP00000495085.1:n.*2423C>A
ENST00000644772.1:c.4058C>A	ENSP00000494321.1:p.Pro1353Gln
ENST00000645004.1:n.1647C>A
ENST00000645076.1:c.3191C>A
ENST00000645417.1:c.1180C>A
ENST00000645744.1:c.*2772C>A	ENSP00000494564.1:n.*2772C>A
ENST00000645760.1:c.4413C>A
ENST00000645884.1:c.*1275C>A	ENSP00000495516.1:n.*1275C>A
ENST00000646003.1:c.*2094C>A	ENSP00000495259.1:n.*2094C>A
ENST00000646207.1:c.*2829C>A	ENSP00000495025.1:n.*2829C>A
ENST00000646276.1:c.*2411C>A	ENSP00000496070.1:n.*2411C>A
ENST00000646592.1:c.3298C>A
ENST00000646902.1:c.3986-27C>A	ENSP00000494101.1:n.3986-27C>A
ENST00000646993.1:c.*2534C>A	ENSP00000493720.1:n.*2534C>A
ENST00000647013.1:c.3998C>A	ENSP00000496741.1:n.3998C>A
ENST00000647015.1:c.3743C>A	ENSP00000495389.1:p.Pro1248Gln
ENST00000647086.1:c.*3605-27C>A	ENSP00000493677.1:n.*3605-27C>A
ENST00000647158.1:c.*2279C>A	ENSP00000495744.1:n.*2279C>A
ENST00000302539.8:c.3995C>A	ENSP00000303960.4:p.Pro1332Gln
ENST00000389817.7:c.3992C>A	ENSP00000374467.3:p.Pro1331Gln
ENST00000527905.5:c.*1014C>A	ENSP00000431653.1:n.*1014C>A
ENST00000528374.1:c.474C>A
ENST00000531137.1:n.557C>A
ENST00000531891.1:c.357-27C>A
ENST00000532220.1:n.466C>A
NM_000352.4:c.3992C>A	NP_000343.2:p.Pro1331Gln
NM_001287174.1:c.3995C>A	NP_001274103.1:p.Pro1332Gln
XM_011520331.1:c.3992C>A	XP_011518633.1:p.Pro1331Gln
XM_011520332.1:c.3995C>A	XP_011518634.1:p.Pro1332Gln
XM_011520333.1:c.2492C>A	XP_011518635.1:p.Pro831Gln
XR_930890.1:n.4058C>A
NM_001351295.1:c.4058C>A	NP_001338224.1:p.Pro1353Gln
NM_001351296.1:c.3992C>A	NP_001338225.1:p.Pro1331Gln
NM_001351297.1:c.3989C>A	NP_001338226.1:p.Pro1330Gln
NR_147094.1:n.4287C>A
XM_017018197.2:c.4061C>A	XP_016873686.1:p.Pro1354Gln
XM_017018199.1:c.4058C>A	XP_016873688.1:p.Pro1353Gln
XM_017018201.2:c.4061C>A	XP_016873690.1:p.Pro1354Gln
XM_017018202.1:c.2558C>A	XP_016873691.1:p.Pro853Gln
XM_017018204.1:c.1949C>A	XP_016873693.1:p.Pro650Gln
XM_024448668.1:c.2360C>A	XP_024304436.1:p.Pro787Gln
XR_001747945.2:n.4133C>A
XR_001747946.2:n.4064C>A
XR_002957189.1:n.4729C>A
NM_000352.6:c.3992C>A MANE Select	NP_000343.2:p.Pro1331Gln
NM_001287174.2:c.3995C>A	NP_001274103.1:p.Pro1332Gln
NM_001351295.2:c.4058C>A	NP_001338224.1:p.Pro1353Gln
NM_001351296.2:c.3992C>A	NP_001338225.1:p.Pro1331Gln
NM_001351297.2:c.3989C>A	NP_001338226.1:p.Pro1330Gln
NR_147094.2:n.4287C>A
NM_001287174.3:c.3995C>A	NP_001274103.1:p.Pro1332Gln