Canonical Allele Identifier: CA379802839

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428284T>G (hg19) ; chr11:g.17406737T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406737T>G , CM000673.2:g.17406737T>G	GRCh38
NC_000011.9:g.17428284T>G , CM000673.1:g.17428284T>G	GRCh37
NC_000011.8:g.17384860T>G	NCBI36
NG_008867.1:g.75166A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2783A>C
ENST00000529967.6:n.1553A>C
ENST00000532220.2:n.946A>C
ENST00000642611.2:n.3283A>C
ENST00000645004.2:n.713A>C
ENST00000682051.1:n.3230A>C
ENST00000682110.1:n.3283A>C
ENST00000682140.1:c.3211A>C	ENSP00000507829.1:p.Ser1071Arg
ENST00000682185.1:n.4519A>C
ENST00000682204.1:c.*1352A>C	ENSP00000507094.1:n.*1352A>C
ENST00000682215.1:n.3280A>C
ENST00000682288.1:c.*1645A>C	ENSP00000507506.1:n.*1645A>C
ENST00000682442.1:n.3503A>C
ENST00000682528.1:n.3360A>C
ENST00000682673.1:n.3227A>C
ENST00000682805.1:n.3280A>C
ENST00000682965.1:c.3211A>C	ENSP00000508229.1:p.Ser1071Arg
ENST00000683093.1:n.3382A>C
ENST00000683136.1:c.3211A>C	ENSP00000507768.1:p.Ser1071Arg
ENST00000683153.1:n.3439A>C
ENST00000683365.1:n.3385A>C
ENST00000683377.1:n.3283A>C
ENST00000683456.1:c.*351A>C	ENSP00000508318.1:n.*351A>C
ENST00000683522.1:n.3283A>C
ENST00000683562.1:c.*1383A>C	ENSP00000508265.1:n.*1383A>C
ENST00000683693.1:n.3360A>C
ENST00000683725.1:c.3214A>C	ENSP00000507496.1:p.Ser1072Arg
ENST00000684010.1:n.3278A>C
ENST00000684157.1:n.3283A>C
ENST00000684253.1:n.3186A>C
ENST00000684288.1:c.*1386A>C	ENSP00000507143.1:n.*1386A>C
ENST00000684313.1:n.2715A>C
ENST00000684332.1:n.3356A>C
ENST00000684371.1:n.3389A>C
ENST00000684404.1:n.3326A>C
ENST00000684442.1:n.3283A>C
ENST00000684555.1:c.*1426A>C	ENSP00000507705.1:n.*1426A>C
ENST00000684571.1:c.3055A>C	ENSP00000506935.1:p.Ser1019Arg
ENST00000684593.1:c.*2919A>C	ENSP00000507005.1:n.*2919A>C
ENST00000684711.1:c.*1610A>C	ENSP00000506841.1:n.*1610A>C
ENST00000302539.9:c.3217A>C	ENSP00000303960.4:p.Ser1073Arg
ENST00000389817.8:c.3214A>C MANE Select	ENSP00000374467.4:p.Ser1072Arg
ENST00000642271.1:c.3211A>C	ENSP00000493749.1:p.Ser1071Arg
ENST00000642579.1:c.1298A>C
ENST00000642611.1:n.3168A>C
ENST00000642902.1:c.2996A>C
ENST00000643260.1:c.3214A>C	ENSP00000494450.1:p.Ser1072Arg
ENST00000643562.1:c.*1190A>C	ENSP00000496124.1:n.*1190A>C
ENST00000643925.1:c.1338A>C
ENST00000644447.1:c.1570A>C	ENSP00000496282.1:p.Ser524Arg
ENST00000644484.1:c.*1469A>C	ENSP00000493558.1:n.*1469A>C
ENST00000644542.1:c.*3018A>C	ENSP00000495532.1:n.*3018A>C
ENST00000644675.1:c.*1386A>C	ENSP00000494567.1:n.*1386A>C
ENST00000644757.1:c.*1499A>C	ENSP00000495085.1:n.*1499A>C
ENST00000644772.1:c.3280A>C	ENSP00000494321.1:p.Ser1094Arg
ENST00000645004.1:n.353A>C
ENST00000645076.1:c.2413A>C
ENST00000645417.1:c.380A>C
ENST00000645744.1:c.*1478A>C	ENSP00000494564.1:n.*1478A>C
ENST00000645760.1:c.3489A>C
ENST00000645884.1:c.*351A>C	ENSP00000495516.1:n.*351A>C
ENST00000646003.1:c.*1170A>C	ENSP00000495259.1:n.*1170A>C
ENST00000646207.1:c.*1681A>C	ENSP00000495025.1:n.*1681A>C
ENST00000646276.1:c.*1487A>C	ENSP00000496070.1:n.*1487A>C
ENST00000646592.1:c.2520A>C
ENST00000646902.1:c.3211A>C	ENSP00000494101.1:p.Ser1071Arg
ENST00000646993.1:c.*1610A>C	ENSP00000493720.1:n.*1610A>C
ENST00000647013.1:c.3220A>C	ENSP00000496741.1:n.3220A>C
ENST00000647015.1:c.2965A>C	ENSP00000495389.1:p.Ser989Arg
ENST00000647086.1:c.*2944A>C	ENSP00000493677.1:n.*2944A>C
ENST00000647158.1:c.*1355A>C	ENSP00000495744.1:n.*1355A>C
ENST00000302539.8:c.3217A>C	ENSP00000303960.4:p.Ser1073Arg
ENST00000389817.7:c.3214A>C	ENSP00000374467.3:p.Ser1072Arg
ENST00000524561.1:n.346A>C
ENST00000526921.5:n.898A>C
ENST00000527905.5:c.*90A>C	ENSP00000431653.1:n.*90A>C
NM_000352.4:c.3214A>C	NP_000343.2:p.Ser1072Arg
NM_001287174.1:c.3217A>C	NP_001274103.1:p.Ser1073Arg
XM_011520331.1:c.3214A>C	XP_011518633.1:p.Ser1072Arg
XM_011520332.1:c.3217A>C	XP_011518634.1:p.Ser1073Arg
XM_011520333.1:c.1714A>C	XP_011518635.1:p.Ser572Arg
XR_930890.1:n.3280A>C
XR_930891.1:n.3280A>C
XR_930892.1:n.3180A>C
XR_930893.1:n.3177A>C
NM_001351295.1:c.3280A>C	NP_001338224.1:p.Ser1094Arg
NM_001351296.1:c.3214A>C	NP_001338225.1:p.Ser1072Arg
NM_001351297.1:c.3211A>C	NP_001338226.1:p.Ser1071Arg
NR_147094.1:n.3363A>C
XM_017018197.2:c.3283A>C	XP_016873686.1:p.Ser1095Arg
XM_017018199.1:c.3280A>C	XP_016873688.1:p.Ser1094Arg
XM_017018201.2:c.3283A>C	XP_016873690.1:p.Ser1095Arg
XM_017018202.1:c.1780A>C	XP_016873691.1:p.Ser594Arg
XM_017018204.1:c.1171A>C	XP_016873693.1:p.Ser391Arg
XM_024448668.1:c.1582A>C	XP_024304436.1:p.Ser528Arg
XR_001747945.2:n.3355A>C
XR_001747946.2:n.3286A>C
XR_002957189.1:n.3435A>C
NM_000352.6:c.3214A>C MANE Select	NP_000343.2:p.Ser1072Arg
NM_001287174.2:c.3217A>C	NP_001274103.1:p.Ser1073Arg
NM_001351295.2:c.3280A>C	NP_001338224.1:p.Ser1094Arg
NM_001351296.2:c.3214A>C	NP_001338225.1:p.Ser1072Arg
NM_001351297.2:c.3211A>C	NP_001338226.1:p.Ser1071Arg
NR_147094.2:n.3363A>C
NM_001287174.3:c.3217A>C	NP_001274103.1:p.Ser1073Arg