Canonical Allele Identifier: CA379790580

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418521T>A (hg19) ; chr11:g.17396974T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396974T>A , CM000673.2:g.17396974T>A	GRCh38
NC_000011.9:g.17418521T>A , CM000673.1:g.17418521T>A	GRCh37
NC_000011.8:g.17375097T>A	NCBI36
NG_008867.1:g.84929A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3662A>T
ENST00000528374.2:c.652A>T
ENST00000529967.6:n.2400A>T
ENST00000532220.2:n.2309A>T
ENST00000642611.2:n.4276A>T
ENST00000644057.2:n.504A>T
ENST00000645004.2:n.1560A>T
ENST00000682051.1:n.4223A>T
ENST00000682110.1:n.4276A>T
ENST00000682140.1:c.3985+219A>T	ENSP00000507829.1:n.3985+219A>T
ENST00000682185.1:n.5366A>T
ENST00000682204.1:c.*2199A>T	ENSP00000507094.1:n.*2199A>T
ENST00000682215.1:n.4643A>T
ENST00000682288.1:c.*2492A>T	ENSP00000507506.1:n.*2492A>T
ENST00000682442.1:n.4496A>T
ENST00000682528.1:n.4353A>T
ENST00000682673.1:n.4220A>T
ENST00000682805.1:n.4643A>T
ENST00000682965.1:c.*483A>T	ENSP00000508229.1:n.*483A>T
ENST00000683093.1:n.4375A>T
ENST00000683136.1:c.3944A>T	ENSP00000507768.1:p.Asp1315Val
ENST00000683153.1:n.4318A>T
ENST00000683365.1:n.4378A>T
ENST00000683377.1:n.4276A>T
ENST00000683456.1:c.*1198A>T	ENSP00000508318.1:n.*1198A>T
ENST00000683522.1:n.4276A>T
ENST00000683562.1:c.*2230A>T	ENSP00000508265.1:n.*2230A>T
ENST00000683693.1:n.4723A>T
ENST00000683725.1:c.4061A>T	ENSP00000507496.1:p.Asp1354Val
ENST00000684010.1:n.4271A>T
ENST00000684157.1:n.4276A>T
ENST00000684253.1:n.4179A>T
ENST00000684288.1:c.*2233A>T	ENSP00000507143.1:n.*2233A>T
ENST00000684313.1:n.3708A>T
ENST00000684332.1:n.4349A>T
ENST00000684371.1:n.4382A>T
ENST00000684404.1:n.4319A>T
ENST00000684442.1:n.4500A>T
ENST00000684555.1:c.*2273A>T	ENSP00000507705.1:n.*2273A>T
ENST00000684571.1:c.3902A>T	ENSP00000506935.1:p.Asp1301Val
ENST00000684593.1:c.*3766A>T	ENSP00000507005.1:n.*3766A>T
ENST00000684711.1:c.*2457A>T	ENSP00000506841.1:n.*2457A>T
ENST00000302539.9:c.4064A>T	ENSP00000303960.4:p.Asp1355Val
ENST00000389817.8:c.4061A>T MANE Select	ENSP00000374467.4:p.Asp1354Val
ENST00000642271.1:c.4058A>T	ENSP00000493749.1:p.Asp1353Val
ENST00000642579.1:c.2115A>T
ENST00000642611.1:n.4161A>T
ENST00000642902.1:c.3843A>T
ENST00000643260.1:c.4061A>T	ENSP00000494450.1:p.Asp1354Val
ENST00000643562.1:c.*2183A>T	ENSP00000496124.1:n.*2183A>T
ENST00000643925.1:c.2701A>T
ENST00000644057.1:n.138A>T
ENST00000644484.1:c.*2462A>T	ENSP00000493558.1:n.*2462A>T
ENST00000644675.1:c.*2233A>T	ENSP00000494567.1:n.*2233A>T
ENST00000644757.1:c.*2492A>T	ENSP00000495085.1:n.*2492A>T
ENST00000644772.1:c.4127A>T	ENSP00000494321.1:p.Asp1376Val
ENST00000645004.1:n.1716A>T
ENST00000645076.1:c.3260A>T
ENST00000645417.1:c.1249A>T
ENST00000645744.1:c.*2841A>T	ENSP00000494564.1:n.*2841A>T
ENST00000645760.1:c.4482A>T
ENST00000645884.1:c.*1344A>T	ENSP00000495516.1:n.*1344A>T
ENST00000646003.1:c.*2163A>T	ENSP00000495259.1:n.*2163A>T
ENST00000646207.1:c.*2898A>T	ENSP00000495025.1:n.*2898A>T
ENST00000646276.1:c.*2480A>T	ENSP00000496070.1:n.*2480A>T
ENST00000646592.1:c.3367A>T
ENST00000646902.1:c.4028A>T	ENSP00000494101.1:p.Asp1343Val
ENST00000646993.1:c.*2603A>T	ENSP00000493720.1:n.*2603A>T
ENST00000647013.1:c.4067A>T	ENSP00000496741.1:n.4067A>T
ENST00000647015.1:c.3812A>T	ENSP00000495389.1:p.Asp1271Val
ENST00000647086.1:c.*3647A>T	ENSP00000493677.1:n.*3647A>T
ENST00000647158.1:c.*2348A>T	ENSP00000495744.1:n.*2348A>T
ENST00000302539.8:c.4064A>T	ENSP00000303960.4:p.Asp1355Val
ENST00000389817.7:c.4061A>T	ENSP00000374467.3:p.Asp1354Val
ENST00000527905.5:c.*1083A>T	ENSP00000431653.1:n.*1083A>T
ENST00000528374.1:c.543A>T
ENST00000531137.1:n.626A>T
ENST00000531891.1:c.399A>T
ENST00000532220.1:n.535A>T
NM_000352.4:c.4061A>T	NP_000343.2:p.Asp1354Val
NM_001287174.1:c.4064A>T	NP_001274103.1:p.Asp1355Val
XM_011520331.1:c.4061A>T	XP_011518633.1:p.Asp1354Val
XM_011520332.1:c.4064A>T	XP_011518634.1:p.Asp1355Val
XM_011520333.1:c.2561A>T	XP_011518635.1:p.Asp854Val
XR_930890.1:n.4127A>T
NM_001351295.1:c.4127A>T	NP_001338224.1:p.Asp1376Val
NM_001351296.1:c.4061A>T	NP_001338225.1:p.Asp1354Val
NM_001351297.1:c.4058A>T	NP_001338226.1:p.Asp1353Val
NR_147094.1:n.4356A>T
XM_017018197.2:c.4130A>T	XP_016873686.1:p.Asp1377Val
XM_017018199.1:c.4127A>T	XP_016873688.1:p.Asp1376Val
XM_017018201.2:c.4130A>T	XP_016873690.1:p.Asp1377Val
XM_017018202.1:c.2627A>T	XP_016873691.1:p.Asp876Val
XM_017018204.1:c.2018A>T	XP_016873693.1:p.Asp673Val
XM_024448668.1:c.2429A>T	XP_024304436.1:p.Asp810Val
XR_001747945.2:n.4202A>T
XR_001747946.2:n.4133A>T
XR_002957189.1:n.4798A>T
NM_000352.6:c.4061A>T MANE Select	NP_000343.2:p.Asp1354Val
NM_001287174.2:c.4064A>T	NP_001274103.1:p.Asp1355Val
NM_001351295.2:c.4127A>T	NP_001338224.1:p.Asp1376Val
NM_001351296.2:c.4061A>T	NP_001338225.1:p.Asp1354Val
NM_001351297.2:c.4058A>T	NP_001338226.1:p.Asp1353Val
NR_147094.2:n.4356A>T
NM_001287174.3:c.4064A>T	NP_001274103.1:p.Asp1355Val