Canonical Allele Identifier: CA379804987

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429976T>A (hg19) ; chr11:g.17408429T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408429T>A , CM000673.2:g.17408429T>A	GRCh38
NC_000011.9:g.17429976T>A , CM000673.1:g.17429976T>A	GRCh37
NC_000011.8:g.17386552T>A	NCBI36
NG_008867.1:g.73474A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2452A>T
ENST00000529967.6:n.1042A>T
ENST00000532220.2:n.515A>T
ENST00000642611.2:n.2852A>T
ENST00000682051.1:n.2799A>T
ENST00000682110.1:n.2852A>T
ENST00000682140.1:c.2780A>T	ENSP00000507829.1:p.Lys927Met
ENST00000682185.1:n.4088A>T
ENST00000682204.1:c.*921A>T	ENSP00000507094.1:n.*921A>T
ENST00000682215.1:n.2849A>T
ENST00000682288.1:c.*1214A>T	ENSP00000507506.1:n.*1214A>T
ENST00000682442.1:n.2973A>T
ENST00000682528.1:n.2849A>T
ENST00000682673.1:n.2796A>T
ENST00000682805.1:n.2849A>T
ENST00000682965.1:c.2780A>T	ENSP00000508229.1:p.Lys927Met
ENST00000683093.1:n.2951A>T
ENST00000683136.1:c.2780A>T	ENSP00000507768.1:p.Lys927Met
ENST00000683153.1:n.3008A>T
ENST00000683365.1:n.2954A>T
ENST00000683377.1:n.2852A>T
ENST00000683456.1:c.2783A>T	ENSP00000508318.1:p.Lys928Met
ENST00000683522.1:n.2852A>T
ENST00000683562.1:c.*952A>T	ENSP00000508265.1:n.*952A>T
ENST00000683693.1:n.2849A>T
ENST00000683725.1:c.2783A>T	ENSP00000507496.1:p.Lys928Met
ENST00000684010.1:n.2767A>T
ENST00000684157.1:n.2852A>T
ENST00000684253.1:n.2755A>T
ENST00000684288.1:c.*955A>T	ENSP00000507143.1:n.*955A>T
ENST00000684313.1:n.2284A>T
ENST00000684332.1:n.2925A>T
ENST00000684371.1:n.2958A>T
ENST00000684404.1:n.2849A>T
ENST00000684442.1:n.2852A>T
ENST00000684555.1:c.*995A>T	ENSP00000507705.1:n.*995A>T
ENST00000684571.1:c.2624A>T	ENSP00000506935.1:p.Lys875Met
ENST00000684593.1:c.*2488A>T	ENSP00000507005.1:n.*2488A>T
ENST00000684711.1:c.*1179A>T	ENSP00000506841.1:n.*1179A>T
ENST00000302539.9:c.2786A>T	ENSP00000303960.4:p.Lys929Met
ENST00000389817.8:c.2783A>T MANE Select	ENSP00000374467.4:p.Lys928Met
ENST00000642271.1:c.2780A>T	ENSP00000493749.1:p.Lys927Met
ENST00000642579.1:c.867A>T
ENST00000642611.1:n.2737A>T
ENST00000642902.1:c.2618A>T
ENST00000643260.1:c.2783A>T	ENSP00000494450.1:p.Lys928Met
ENST00000643562.1:c.*759A>T	ENSP00000496124.1:n.*759A>T
ENST00000643925.1:c.827A>T
ENST00000644447.1:c.1139A>T	ENSP00000496282.1:p.Lys380Met
ENST00000644484.1:c.*992A>T	ENSP00000493558.1:n.*992A>T
ENST00000644542.1:c.*2488A>T	ENSP00000495532.1:n.*2488A>T
ENST00000644675.1:c.*955A>T	ENSP00000494567.1:n.*955A>T
ENST00000644757.1:c.*1088A>T	ENSP00000495085.1:n.*1088A>T
ENST00000644772.1:c.2849A>T	ENSP00000494321.1:p.Lys950Met
ENST00000645076.1:c.2035A>T
ENST00000645744.1:c.*1147A>T	ENSP00000494564.1:n.*1147A>T
ENST00000645760.1:c.3058A>T
ENST00000645884.1:c.2783A>T	ENSP00000495516.1:p.Lys928Met
ENST00000646003.1:c.*839A>T	ENSP00000495259.1:n.*839A>T
ENST00000646207.1:c.*1147A>T	ENSP00000495025.1:n.*1147A>T
ENST00000646276.1:c.*1056A>T	ENSP00000496070.1:n.*1056A>T
ENST00000646592.1:c.2009A>T
ENST00000646902.1:c.2780A>T	ENSP00000494101.1:p.Lys927Met
ENST00000646993.1:c.*1179A>T	ENSP00000493720.1:n.*1179A>T
ENST00000647013.1:c.2789A>T	ENSP00000496741.1:n.2789A>T
ENST00000647015.1:c.2534A>T	ENSP00000495389.1:p.Lys845Met
ENST00000647086.1:c.*2513A>T	ENSP00000493677.1:n.*2513A>T
ENST00000647158.1:c.*924A>T	ENSP00000495744.1:n.*924A>T
ENST00000302539.8:c.2786A>T	ENSP00000303960.4:p.Lys929Met
ENST00000389817.7:c.2783A>T	ENSP00000374467.3:p.Lys928Met
ENST00000526921.5:n.467A>T
ENST00000527905.5:c.2753A>T	ENSP00000431653.1:p.Lys918Met
ENST00000529967.5:n.452A>T
NM_000352.4:c.2783A>T	NP_000343.2:p.Lys928Met
NM_001287174.1:c.2786A>T	NP_001274103.1:p.Lys929Met
XM_011520331.1:c.2783A>T	XP_011518633.1:p.Lys928Met
XM_011520332.1:c.2786A>T	XP_011518634.1:p.Lys929Met
XM_011520333.1:c.1283A>T	XP_011518635.1:p.Lys428Met
XM_011520334.1:c.2786A>T	XP_011518636.1:p.Lys929Met
XR_930890.1:n.2849A>T
XR_930891.1:n.2849A>T
XR_930892.1:n.2849A>T
XR_930893.1:n.2846A>T
NM_001351295.1:c.2849A>T	NP_001338224.1:p.Lys950Met
NM_001351296.1:c.2783A>T	NP_001338225.1:p.Lys928Met
NM_001351297.1:c.2780A>T	NP_001338226.1:p.Lys927Met
NR_147094.1:n.2852A>T
XM_017018197.2:c.2852A>T	XP_016873686.1:p.Lys951Met
XM_017018199.1:c.2849A>T	XP_016873688.1:p.Lys950Met
XM_017018201.2:c.2852A>T	XP_016873690.1:p.Lys951Met
XM_017018202.1:c.1349A>T	XP_016873691.1:p.Lys450Met
XM_017018204.1:c.740A>T	XP_016873693.1:p.Lys247Met
XM_024448668.1:c.1151A>T	XP_024304436.1:p.Lys384Met
XR_001747945.2:n.2924A>T
XR_001747946.2:n.2855A>T
XR_002957189.1:n.2924A>T
NM_000352.6:c.2783A>T MANE Select	NP_000343.2:p.Lys928Met
NM_001287174.2:c.2786A>T	NP_001274103.1:p.Lys929Met
NM_001351295.2:c.2849A>T	NP_001338224.1:p.Lys950Met
NM_001351296.2:c.2783A>T	NP_001338225.1:p.Lys928Met
NM_001351297.2:c.2780A>T	NP_001338226.1:p.Lys927Met
NR_147094.2:n.2852A>T
NM_001287174.3:c.2786A>T	NP_001274103.1:p.Lys929Met