Canonical Allele Identifier: CA379804983

Gene: ABCC8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2452A>C
ENST00000529967.6:n.1042A>C
ENST00000532220.2:n.515A>C
ENST00000642611.2:n.2852A>C
ENST00000682051.1:n.2799A>C
ENST00000682110.1:n.2852A>C
ENST00000682140.1:c.2780A>C	ENSP00000507829.1:p.Lys927Thr
ENST00000682185.1:n.4088A>C
ENST00000682204.1:c.*921A>C	ENSP00000507094.1:n.*921A>C
ENST00000682215.1:n.2849A>C
ENST00000682288.1:c.*1214A>C	ENSP00000507506.1:n.*1214A>C
ENST00000682442.1:n.2973A>C
ENST00000682528.1:n.2849A>C
ENST00000682673.1:n.2796A>C
ENST00000682805.1:n.2849A>C
ENST00000682965.1:c.2780A>C	ENSP00000508229.1:p.Lys927Thr
ENST00000683093.1:n.2951A>C
ENST00000683136.1:c.2780A>C	ENSP00000507768.1:p.Lys927Thr
ENST00000683153.1:n.3008A>C
ENST00000683365.1:n.2954A>C
ENST00000683377.1:n.2852A>C
ENST00000683456.1:c.2783A>C	ENSP00000508318.1:p.Lys928Thr
ENST00000683522.1:n.2852A>C
ENST00000683562.1:c.*952A>C	ENSP00000508265.1:n.*952A>C
ENST00000683693.1:n.2849A>C
ENST00000683725.1:c.2783A>C	ENSP00000507496.1:p.Lys928Thr
ENST00000684010.1:n.2767A>C
ENST00000684157.1:n.2852A>C
ENST00000684253.1:n.2755A>C
ENST00000684288.1:c.*955A>C	ENSP00000507143.1:n.*955A>C
ENST00000684313.1:n.2284A>C
ENST00000684332.1:n.2925A>C
ENST00000684371.1:n.2958A>C
ENST00000684404.1:n.2849A>C
ENST00000684442.1:n.2852A>C
ENST00000684555.1:c.*995A>C	ENSP00000507705.1:n.*995A>C
ENST00000684571.1:c.2624A>C	ENSP00000506935.1:p.Lys875Thr
ENST00000684593.1:c.*2488A>C	ENSP00000507005.1:n.*2488A>C
ENST00000684711.1:c.*1179A>C	ENSP00000506841.1:n.*1179A>C
ENST00000302539.9:c.2786A>C	ENSP00000303960.4:p.Lys929Thr
ENST00000389817.8:c.2783A>C MANE Select	ENSP00000374467.4:p.Lys928Thr
ENST00000642271.1:c.2780A>C	ENSP00000493749.1:p.Lys927Thr
ENST00000642579.1:c.867A>C
ENST00000642611.1:n.2737A>C
ENST00000642902.1:c.2618A>C
ENST00000643260.1:c.2783A>C	ENSP00000494450.1:p.Lys928Thr
ENST00000643562.1:c.*759A>C	ENSP00000496124.1:n.*759A>C
ENST00000643925.1:c.827A>C
ENST00000644447.1:c.1139A>C	ENSP00000496282.1:p.Lys380Thr
ENST00000644484.1:c.*992A>C	ENSP00000493558.1:n.*992A>C
ENST00000644542.1:c.*2488A>C	ENSP00000495532.1:n.*2488A>C
ENST00000644675.1:c.*955A>C	ENSP00000494567.1:n.*955A>C
ENST00000644757.1:c.*1088A>C	ENSP00000495085.1:n.*1088A>C
ENST00000644772.1:c.2849A>C	ENSP00000494321.1:p.Lys950Thr
ENST00000645076.1:c.2035A>C
ENST00000645744.1:c.*1147A>C	ENSP00000494564.1:n.*1147A>C
ENST00000645760.1:c.3058A>C
ENST00000645884.1:c.2783A>C	ENSP00000495516.1:p.Lys928Thr
ENST00000646003.1:c.*839A>C	ENSP00000495259.1:n.*839A>C
ENST00000646207.1:c.*1147A>C	ENSP00000495025.1:n.*1147A>C
ENST00000646276.1:c.*1056A>C	ENSP00000496070.1:n.*1056A>C
ENST00000646592.1:c.2009A>C
ENST00000646902.1:c.2780A>C	ENSP00000494101.1:p.Lys927Thr
ENST00000646993.1:c.*1179A>C	ENSP00000493720.1:n.*1179A>C
ENST00000647013.1:c.2789A>C	ENSP00000496741.1:n.2789A>C
ENST00000647015.1:c.2534A>C	ENSP00000495389.1:p.Lys845Thr
ENST00000647086.1:c.*2513A>C	ENSP00000493677.1:n.*2513A>C
ENST00000647158.1:c.*924A>C	ENSP00000495744.1:n.*924A>C
ENST00000302539.8:c.2786A>C	ENSP00000303960.4:p.Lys929Thr
ENST00000389817.7:c.2783A>C	ENSP00000374467.3:p.Lys928Thr
ENST00000526921.5:n.467A>C
ENST00000527905.5:c.2753A>C	ENSP00000431653.1:p.Lys918Thr
ENST00000529967.5:n.452A>C
NM_000352.4:c.2783A>C	NP_000343.2:p.Lys928Thr
NM_001287174.1:c.2786A>C	NP_001274103.1:p.Lys929Thr
XM_011520331.1:c.2783A>C	XP_011518633.1:p.Lys928Thr
XM_011520332.1:c.2786A>C	XP_011518634.1:p.Lys929Thr
XM_011520333.1:c.1283A>C	XP_011518635.1:p.Lys428Thr
XM_011520334.1:c.2786A>C	XP_011518636.1:p.Lys929Thr
XR_930890.1:n.2849A>C
XR_930891.1:n.2849A>C
XR_930892.1:n.2849A>C
XR_930893.1:n.2846A>C
NM_001351295.1:c.2849A>C	NP_001338224.1:p.Lys950Thr
NM_001351296.1:c.2783A>C	NP_001338225.1:p.Lys928Thr
NM_001351297.1:c.2780A>C	NP_001338226.1:p.Lys927Thr
NR_147094.1:n.2852A>C
XM_017018197.2:c.2852A>C	XP_016873686.1:p.Lys951Thr
XM_017018199.1:c.2849A>C	XP_016873688.1:p.Lys950Thr
XM_017018201.2:c.2852A>C	XP_016873690.1:p.Lys951Thr
XM_017018202.1:c.1349A>C	XP_016873691.1:p.Lys450Thr
XM_017018204.1:c.740A>C	XP_016873693.1:p.Lys247Thr
XM_024448668.1:c.1151A>C	XP_024304436.1:p.Lys384Thr
XR_001747945.2:n.2924A>C
XR_001747946.2:n.2855A>C
XR_002957189.1:n.2924A>C
NM_000352.6:c.2783A>C MANE Select	NP_000343.2:p.Lys928Thr
NM_001287174.2:c.2786A>C	NP_001274103.1:p.Lys929Thr
NM_001351295.2:c.2849A>C	NP_001338224.1:p.Lys950Thr
NM_001351296.2:c.2783A>C	NP_001338225.1:p.Lys928Thr
NM_001351297.2:c.2780A>C	NP_001338226.1:p.Lys927Thr
NR_147094.2:n.2852A>C
NM_001287174.3:c.2786A>C	NP_001274103.1:p.Lys929Thr