Canonical Allele Identifier: CA379791328

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418591G>T (hg19) ; chr11:g.17397044G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397044G>T , CM000673.2:g.17397044G>T	GRCh38
NC_000011.9:g.17418591G>T , CM000673.1:g.17418591G>T	GRCh37
NC_000011.8:g.17375167G>T	NCBI36
NG_008867.1:g.84859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3592C>A
ENST00000528374.2:c.582C>A
ENST00000529967.6:n.2330C>A
ENST00000532220.2:n.2239C>A
ENST00000642611.2:n.4206C>A
ENST00000644057.2:n.434C>A
ENST00000645004.2:n.1490C>A
ENST00000682051.1:n.4153C>A
ENST00000682110.1:n.4206C>A
ENST00000682140.1:c.3985+149C>A	ENSP00000507829.1:n.3985+149C>A
ENST00000682185.1:n.5296C>A
ENST00000682204.1:c.*2129C>A	ENSP00000507094.1:n.*2129C>A
ENST00000682215.1:n.4573C>A
ENST00000682288.1:c.*2422C>A	ENSP00000507506.1:n.*2422C>A
ENST00000682442.1:n.4426C>A
ENST00000682528.1:n.4283C>A
ENST00000682673.1:n.4150C>A
ENST00000682805.1:n.4573C>A
ENST00000682965.1:c.*413C>A	ENSP00000508229.1:n.*413C>A
ENST00000683093.1:n.4305C>A
ENST00000683136.1:c.3874C>A	ENSP00000507768.1:p.Pro1292Thr
ENST00000683153.1:n.4248C>A
ENST00000683365.1:n.4308C>A
ENST00000683377.1:n.4206C>A
ENST00000683456.1:c.*1128C>A	ENSP00000508318.1:n.*1128C>A
ENST00000683522.1:n.4206C>A
ENST00000683562.1:c.*2160C>A	ENSP00000508265.1:n.*2160C>A
ENST00000683693.1:n.4653C>A
ENST00000683725.1:c.3991C>A	ENSP00000507496.1:p.Pro1331Thr
ENST00000684010.1:n.4201C>A
ENST00000684157.1:n.4206C>A
ENST00000684253.1:n.4109C>A
ENST00000684288.1:c.*2163C>A	ENSP00000507143.1:n.*2163C>A
ENST00000684313.1:n.3638C>A
ENST00000684332.1:n.4279C>A
ENST00000684371.1:n.4312C>A
ENST00000684404.1:n.4249C>A
ENST00000684442.1:n.4430C>A
ENST00000684555.1:c.*2203C>A	ENSP00000507705.1:n.*2203C>A
ENST00000684571.1:c.3832C>A	ENSP00000506935.1:p.Pro1278Thr
ENST00000684593.1:c.*3696C>A	ENSP00000507005.1:n.*3696C>A
ENST00000684711.1:c.*2387C>A	ENSP00000506841.1:n.*2387C>A
ENST00000302539.9:c.3994C>A	ENSP00000303960.4:p.Pro1332Thr
ENST00000389817.8:c.3991C>A MANE Select	ENSP00000374467.4:p.Pro1331Thr
ENST00000642271.1:c.3988C>A	ENSP00000493749.1:p.Pro1330Thr
ENST00000642579.1:c.2073-28C>A
ENST00000642611.1:n.4091C>A
ENST00000642902.1:c.3773C>A
ENST00000643260.1:c.3991C>A	ENSP00000494450.1:p.Pro1331Thr
ENST00000643562.1:c.*2113C>A	ENSP00000496124.1:n.*2113C>A
ENST00000643925.1:c.2631C>A
ENST00000644057.1:n.68C>A
ENST00000644484.1:c.*2392C>A	ENSP00000493558.1:n.*2392C>A
ENST00000644675.1:c.*2163C>A	ENSP00000494567.1:n.*2163C>A
ENST00000644757.1:c.*2422C>A	ENSP00000495085.1:n.*2422C>A
ENST00000644772.1:c.4057C>A	ENSP00000494321.1:p.Pro1353Thr
ENST00000645004.1:n.1646C>A
ENST00000645076.1:c.3190C>A
ENST00000645417.1:c.1179C>A
ENST00000645744.1:c.*2771C>A	ENSP00000494564.1:n.*2771C>A
ENST00000645760.1:c.4412C>A
ENST00000645884.1:c.*1274C>A	ENSP00000495516.1:n.*1274C>A
ENST00000646003.1:c.*2093C>A	ENSP00000495259.1:n.*2093C>A
ENST00000646207.1:c.*2828C>A	ENSP00000495025.1:n.*2828C>A
ENST00000646276.1:c.*2410C>A	ENSP00000496070.1:n.*2410C>A
ENST00000646592.1:c.3297C>A
ENST00000646902.1:c.3986-28C>A	ENSP00000494101.1:n.3986-28C>A
ENST00000646993.1:c.*2533C>A	ENSP00000493720.1:n.*2533C>A
ENST00000647013.1:c.3997C>A	ENSP00000496741.1:n.3997C>A
ENST00000647015.1:c.3742C>A	ENSP00000495389.1:p.Pro1248Thr
ENST00000647086.1:c.*3605-28C>A	ENSP00000493677.1:n.*3605-28C>A
ENST00000647158.1:c.*2278C>A	ENSP00000495744.1:n.*2278C>A
ENST00000302539.8:c.3994C>A	ENSP00000303960.4:p.Pro1332Thr
ENST00000389817.7:c.3991C>A	ENSP00000374467.3:p.Pro1331Thr
ENST00000527905.5:c.*1013C>A	ENSP00000431653.1:n.*1013C>A
ENST00000528374.1:c.473C>A
ENST00000531137.1:n.556C>A
ENST00000531891.1:c.357-28C>A
ENST00000532220.1:n.465C>A
NM_000352.4:c.3991C>A	NP_000343.2:p.Pro1331Thr
NM_001287174.1:c.3994C>A	NP_001274103.1:p.Pro1332Thr
XM_011520331.1:c.3991C>A	XP_011518633.1:p.Pro1331Thr
XM_011520332.1:c.3994C>A	XP_011518634.1:p.Pro1332Thr
XM_011520333.1:c.2491C>A	XP_011518635.1:p.Pro831Thr
XR_930890.1:n.4057C>A
NM_001351295.1:c.4057C>A	NP_001338224.1:p.Pro1353Thr
NM_001351296.1:c.3991C>A	NP_001338225.1:p.Pro1331Thr
NM_001351297.1:c.3988C>A	NP_001338226.1:p.Pro1330Thr
NR_147094.1:n.4286C>A
XM_017018197.2:c.4060C>A	XP_016873686.1:p.Pro1354Thr
XM_017018199.1:c.4057C>A	XP_016873688.1:p.Pro1353Thr
XM_017018201.2:c.4060C>A	XP_016873690.1:p.Pro1354Thr
XM_017018202.1:c.2557C>A	XP_016873691.1:p.Pro853Thr
XM_017018204.1:c.1948C>A	XP_016873693.1:p.Pro650Thr
XM_024448668.1:c.2359C>A	XP_024304436.1:p.Pro787Thr
XR_001747945.2:n.4132C>A
XR_001747946.2:n.4063C>A
XR_002957189.1:n.4728C>A
NM_000352.6:c.3991C>A MANE Select	NP_000343.2:p.Pro1331Thr
NM_001287174.2:c.3994C>A	NP_001274103.1:p.Pro1332Thr
NM_001351295.2:c.4057C>A	NP_001338224.1:p.Pro1353Thr
NM_001351296.2:c.3991C>A	NP_001338225.1:p.Pro1331Thr
NM_001351297.2:c.3988C>A	NP_001338226.1:p.Pro1330Thr
NR_147094.2:n.4286C>A
NM_001287174.3:c.3994C>A	NP_001274103.1:p.Pro1332Thr