Canonical Allele Identifier: CA379801464

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428213T>G (hg19) ; chr11:g.17406666T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406666T>G , CM000673.2:g.17406666T>G	GRCh38
NC_000011.9:g.17428213T>G , CM000673.1:g.17428213T>G	GRCh37
NC_000011.8:g.17384789T>G	NCBI36
NG_008867.1:g.75237A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2854A>C
ENST00000529967.6:n.1624A>C
ENST00000532220.2:n.1017A>C
ENST00000642611.2:n.3354A>C
ENST00000645004.2:n.784A>C
ENST00000682051.1:n.3301A>C
ENST00000682110.1:n.3354A>C
ENST00000682140.1:c.3282A>C	ENSP00000507829.1:p.Arg1094Ser
ENST00000682185.1:n.4590A>C
ENST00000682204.1:c.*1423A>C	ENSP00000507094.1:n.*1423A>C
ENST00000682215.1:n.3351A>C
ENST00000682288.1:c.*1716A>C	ENSP00000507506.1:n.*1716A>C
ENST00000682442.1:n.3574A>C
ENST00000682528.1:n.3431A>C
ENST00000682673.1:n.3298A>C
ENST00000682805.1:n.3351A>C
ENST00000682965.1:c.3282A>C	ENSP00000508229.1:p.Arg1094Ser
ENST00000683093.1:n.3453A>C
ENST00000683136.1:c.3282A>C	ENSP00000507768.1:p.Arg1094Ser
ENST00000683153.1:n.3510A>C
ENST00000683365.1:n.3456A>C
ENST00000683377.1:n.3354A>C
ENST00000683456.1:c.*422A>C	ENSP00000508318.1:n.*422A>C
ENST00000683522.1:n.3354A>C
ENST00000683562.1:c.*1454A>C	ENSP00000508265.1:n.*1454A>C
ENST00000683693.1:n.3431A>C
ENST00000683725.1:c.3285A>C	ENSP00000507496.1:p.Arg1095Ser
ENST00000684010.1:n.3349A>C
ENST00000684157.1:n.3354A>C
ENST00000684253.1:n.3257A>C
ENST00000684288.1:c.*1457A>C	ENSP00000507143.1:n.*1457A>C
ENST00000684313.1:n.2786A>C
ENST00000684332.1:n.3427A>C
ENST00000684371.1:n.3460A>C
ENST00000684404.1:n.3397A>C
ENST00000684442.1:n.3354A>C
ENST00000684555.1:c.*1497A>C	ENSP00000507705.1:n.*1497A>C
ENST00000684571.1:c.3126A>C	ENSP00000506935.1:p.Arg1042Ser
ENST00000684593.1:c.*2990A>C	ENSP00000507005.1:n.*2990A>C
ENST00000684711.1:c.*1681A>C	ENSP00000506841.1:n.*1681A>C
ENST00000302539.9:c.3288A>C	ENSP00000303960.4:p.Arg1096Ser
ENST00000389817.8:c.3285A>C MANE Select	ENSP00000374467.4:p.Arg1095Ser
ENST00000642271.1:c.3282A>C	ENSP00000493749.1:p.Arg1094Ser
ENST00000642579.1:c.1369A>C
ENST00000642611.1:n.3239A>C
ENST00000642902.1:c.3067A>C
ENST00000643260.1:c.3285A>C	ENSP00000494450.1:p.Arg1095Ser
ENST00000643562.1:c.*1261A>C	ENSP00000496124.1:n.*1261A>C
ENST00000643925.1:c.1409A>C
ENST00000644447.1:c.1641A>C	ENSP00000496282.1:p.Arg547Ser
ENST00000644484.1:c.*1540A>C	ENSP00000493558.1:n.*1540A>C
ENST00000644542.1:c.*3089A>C	ENSP00000495532.1:n.*3089A>C
ENST00000644675.1:c.*1457A>C	ENSP00000494567.1:n.*1457A>C
ENST00000644757.1:c.*1570A>C	ENSP00000495085.1:n.*1570A>C
ENST00000644772.1:c.3351A>C	ENSP00000494321.1:p.Arg1117Ser
ENST00000645004.1:n.424A>C
ENST00000645076.1:c.2484A>C
ENST00000645417.1:c.451A>C
ENST00000645744.1:c.*1549A>C	ENSP00000494564.1:n.*1549A>C
ENST00000645760.1:c.3560A>C
ENST00000645884.1:c.*422A>C	ENSP00000495516.1:n.*422A>C
ENST00000646003.1:c.*1241A>C	ENSP00000495259.1:n.*1241A>C
ENST00000646207.1:c.*1752A>C	ENSP00000495025.1:n.*1752A>C
ENST00000646276.1:c.*1558A>C	ENSP00000496070.1:n.*1558A>C
ENST00000646592.1:c.2591A>C
ENST00000646902.1:c.3282A>C	ENSP00000494101.1:p.Arg1094Ser
ENST00000646993.1:c.*1681A>C	ENSP00000493720.1:n.*1681A>C
ENST00000647013.1:c.3291A>C	ENSP00000496741.1:n.3291A>C
ENST00000647015.1:c.3036A>C	ENSP00000495389.1:p.Arg1012Ser
ENST00000647086.1:c.*3015A>C	ENSP00000493677.1:n.*3015A>C
ENST00000647158.1:c.*1426A>C	ENSP00000495744.1:n.*1426A>C
ENST00000302539.8:c.3288A>C	ENSP00000303960.4:p.Arg1096Ser
ENST00000389817.7:c.3285A>C	ENSP00000374467.3:p.Arg1095Ser
ENST00000524561.1:n.417A>C
ENST00000527905.5:c.*161A>C	ENSP00000431653.1:n.*161A>C
NM_000352.4:c.3285A>C	NP_000343.2:p.Arg1095Ser
NM_001287174.1:c.3288A>C	NP_001274103.1:p.Arg1096Ser
XM_011520331.1:c.3285A>C	XP_011518633.1:p.Arg1095Ser
XM_011520332.1:c.3288A>C	XP_011518634.1:p.Arg1096Ser
XM_011520333.1:c.1785A>C	XP_011518635.1:p.Arg595Ser
XR_930890.1:n.3351A>C
XR_930891.1:n.3351A>C
XR_930892.1:n.3251A>C
XR_930893.1:n.3248A>C
NM_001351295.1:c.3351A>C	NP_001338224.1:p.Arg1117Ser
NM_001351296.1:c.3285A>C	NP_001338225.1:p.Arg1095Ser
NM_001351297.1:c.3282A>C	NP_001338226.1:p.Arg1094Ser
NR_147094.1:n.3434A>C
XM_017018197.2:c.3354A>C	XP_016873686.1:p.Arg1118Ser
XM_017018199.1:c.3351A>C	XP_016873688.1:p.Arg1117Ser
XM_017018201.2:c.3354A>C	XP_016873690.1:p.Arg1118Ser
XM_017018202.1:c.1851A>C	XP_016873691.1:p.Arg617Ser
XM_017018204.1:c.1242A>C	XP_016873693.1:p.Arg414Ser
XM_024448668.1:c.1653A>C	XP_024304436.1:p.Arg551Ser
XR_001747945.2:n.3426A>C
XR_001747946.2:n.3357A>C
XR_002957189.1:n.3506A>C
NM_000352.6:c.3285A>C MANE Select	NP_000343.2:p.Arg1095Ser
NM_001287174.2:c.3288A>C	NP_001274103.1:p.Arg1096Ser
NM_001351295.2:c.3351A>C	NP_001338224.1:p.Arg1117Ser
NM_001351296.2:c.3285A>C	NP_001338225.1:p.Arg1095Ser
NM_001351297.2:c.3282A>C	NP_001338226.1:p.Arg1094Ser
NR_147094.2:n.3434A>C
NM_001287174.3:c.3288A>C	NP_001274103.1:p.Arg1096Ser