Canonical Allele Identifier: CA473300246

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428215T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406668T>G , CM000673.2:g.17406668T>G	GRCh38
NC_000011.9:g.17428215T>G , CM000673.1:g.17428215T>G	GRCh37
NC_000011.8:g.17384791T>G	NCBI36
NG_008867.1:g.75235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2852A>C
ENST00000529967.6:n.1622A>C
ENST00000532220.2:n.1015A>C
ENST00000642611.2:n.3352A>C
ENST00000645004.2:n.782A>C
ENST00000682051.1:n.3299A>C
ENST00000682110.1:n.3352A>C
ENST00000682140.1:c.3280A>C	ENSP00000507829.1:p.Arg1094=
ENST00000682185.1:n.4588A>C
ENST00000682204.1:c.*1421A>C	ENSP00000507094.1:n.*1421A>C
ENST00000682215.1:n.3349A>C
ENST00000682288.1:c.*1714A>C	ENSP00000507506.1:n.*1714A>C
ENST00000682442.1:n.3572A>C
ENST00000682528.1:n.3429A>C
ENST00000682673.1:n.3296A>C
ENST00000682805.1:n.3349A>C
ENST00000682965.1:c.3280A>C	ENSP00000508229.1:p.Arg1094=
ENST00000683093.1:n.3451A>C
ENST00000683136.1:c.3280A>C	ENSP00000507768.1:p.Arg1094=
ENST00000683153.1:n.3508A>C
ENST00000683365.1:n.3454A>C
ENST00000683377.1:n.3352A>C
ENST00000683456.1:c.*420A>C	ENSP00000508318.1:n.*420A>C
ENST00000683522.1:n.3352A>C
ENST00000683562.1:c.*1452A>C	ENSP00000508265.1:n.*1452A>C
ENST00000683693.1:n.3429A>C
ENST00000683725.1:c.3283A>C	ENSP00000507496.1:p.Arg1095=
ENST00000684010.1:n.3347A>C
ENST00000684157.1:n.3352A>C
ENST00000684253.1:n.3255A>C
ENST00000684288.1:c.*1455A>C	ENSP00000507143.1:n.*1455A>C
ENST00000684313.1:n.2784A>C
ENST00000684332.1:n.3425A>C
ENST00000684371.1:n.3458A>C
ENST00000684404.1:n.3395A>C
ENST00000684442.1:n.3352A>C
ENST00000684555.1:c.*1495A>C	ENSP00000507705.1:n.*1495A>C
ENST00000684571.1:c.3124A>C	ENSP00000506935.1:p.Arg1042=
ENST00000684593.1:c.*2988A>C	ENSP00000507005.1:n.*2988A>C
ENST00000684711.1:c.*1679A>C	ENSP00000506841.1:n.*1679A>C
ENST00000302539.9:c.3286A>C	ENSP00000303960.4:p.Arg1096=
ENST00000389817.8:c.3283A>C MANE Select	ENSP00000374467.4:p.Arg1095=
ENST00000642271.1:c.3280A>C	ENSP00000493749.1:p.Arg1094=
ENST00000642579.1:c.1367A>C
ENST00000642611.1:n.3237A>C
ENST00000642902.1:c.3065A>C
ENST00000643260.1:c.3283A>C	ENSP00000494450.1:p.Arg1095=
ENST00000643562.1:c.*1259A>C	ENSP00000496124.1:n.*1259A>C
ENST00000643925.1:c.1407A>C
ENST00000644447.1:c.1639A>C	ENSP00000496282.1:p.Arg547=
ENST00000644484.1:c.*1538A>C	ENSP00000493558.1:n.*1538A>C
ENST00000644542.1:c.*3087A>C	ENSP00000495532.1:n.*3087A>C
ENST00000644675.1:c.*1455A>C	ENSP00000494567.1:n.*1455A>C
ENST00000644757.1:c.*1568A>C	ENSP00000495085.1:n.*1568A>C
ENST00000644772.1:c.3349A>C	ENSP00000494321.1:p.Arg1117=
ENST00000645004.1:n.422A>C
ENST00000645076.1:c.2482A>C
ENST00000645417.1:c.449A>C
ENST00000645744.1:c.*1547A>C	ENSP00000494564.1:n.*1547A>C
ENST00000645760.1:c.3558A>C
ENST00000645884.1:c.*420A>C	ENSP00000495516.1:n.*420A>C
ENST00000646003.1:c.*1239A>C	ENSP00000495259.1:n.*1239A>C
ENST00000646207.1:c.*1750A>C	ENSP00000495025.1:n.*1750A>C
ENST00000646276.1:c.*1556A>C	ENSP00000496070.1:n.*1556A>C
ENST00000646592.1:c.2589A>C
ENST00000646902.1:c.3280A>C	ENSP00000494101.1:p.Arg1094=
ENST00000646993.1:c.*1679A>C	ENSP00000493720.1:n.*1679A>C
ENST00000647013.1:c.3289A>C	ENSP00000496741.1:n.3289A>C
ENST00000647015.1:c.3034A>C	ENSP00000495389.1:p.Arg1012=
ENST00000647086.1:c.*3013A>C	ENSP00000493677.1:n.*3013A>C
ENST00000647158.1:c.*1424A>C	ENSP00000495744.1:n.*1424A>C
ENST00000302539.8:c.3286A>C	ENSP00000303960.4:p.Arg1096=
ENST00000389817.7:c.3283A>C	ENSP00000374467.3:p.Arg1095=
ENST00000524561.1:n.415A>C
ENST00000527905.5:c.*159A>C	ENSP00000431653.1:n.*159A>C
NM_000352.4:c.3283A>C	NP_000343.2:p.Arg1095=
NM_001287174.1:c.3286A>C	NP_001274103.1:p.Arg1096=
XM_011520331.1:c.3283A>C	XP_011518633.1:p.Arg1095=
XM_011520332.1:c.3286A>C	XP_011518634.1:p.Arg1096=
XM_011520333.1:c.1783A>C	XP_011518635.1:p.Arg595=
XR_930890.1:n.3349A>C
XR_930891.1:n.3349A>C
XR_930892.1:n.3249A>C
XR_930893.1:n.3246A>C
NM_001351295.1:c.3349A>C	NP_001338224.1:p.Arg1117=
NM_001351296.1:c.3283A>C	NP_001338225.1:p.Arg1095=
NM_001351297.1:c.3280A>C	NP_001338226.1:p.Arg1094=
NR_147094.1:n.3432A>C
XM_017018197.2:c.3352A>C	XP_016873686.1:p.Arg1118=
XM_017018199.1:c.3349A>C	XP_016873688.1:p.Arg1117=
XM_017018201.2:c.3352A>C	XP_016873690.1:p.Arg1118=
XM_017018202.1:c.1849A>C	XP_016873691.1:p.Arg617=
XM_017018204.1:c.1240A>C	XP_016873693.1:p.Arg414=
XM_024448668.1:c.1651A>C	XP_024304436.1:p.Arg551=
XR_001747945.2:n.3424A>C
XR_001747946.2:n.3355A>C
XR_002957189.1:n.3504A>C
NM_000352.6:c.3283A>C MANE Select	NP_000343.2:p.Arg1095=
NM_001287174.2:c.3286A>C	NP_001274103.1:p.Arg1096=
NM_001351295.2:c.3349A>C	NP_001338224.1:p.Arg1117=
NM_001351296.2:c.3283A>C	NP_001338225.1:p.Arg1095=
NM_001351297.2:c.3280A>C	NP_001338226.1:p.Arg1094=
NR_147094.2:n.3432A>C
NM_001287174.3:c.3286A>C	NP_001274103.1:p.Arg1096=