Canonical Allele Identifier: CA379802962

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428320G>A (hg19) ; chr11:g.17406773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406773G>A , CM000673.2:g.17406773G>A	GRCh38
NC_000011.9:g.17428320G>A , CM000673.1:g.17428320G>A	GRCh37
NC_000011.8:g.17384896G>A	NCBI36
NG_008867.1:g.75130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2747C>T
ENST00000529967.6:n.1517C>T
ENST00000532220.2:n.910C>T
ENST00000642611.2:n.3247C>T
ENST00000645004.2:n.677C>T
ENST00000682051.1:n.3194C>T
ENST00000682110.1:n.3247C>T
ENST00000682140.1:c.3175C>T	ENSP00000507829.1:p.Gln1059Ter
ENST00000682185.1:n.4483C>T
ENST00000682204.1:c.*1316C>T	ENSP00000507094.1:n.*1316C>T
ENST00000682215.1:n.3244C>T
ENST00000682288.1:c.*1609C>T	ENSP00000507506.1:n.*1609C>T
ENST00000682442.1:n.3467C>T
ENST00000682528.1:n.3324C>T
ENST00000682673.1:n.3191C>T
ENST00000682805.1:n.3244C>T
ENST00000682965.1:c.3175C>T	ENSP00000508229.1:p.Gln1059Ter
ENST00000683093.1:n.3346C>T
ENST00000683136.1:c.3175C>T	ENSP00000507768.1:p.Gln1059Ter
ENST00000683153.1:n.3403C>T
ENST00000683365.1:n.3349C>T
ENST00000683377.1:n.3247C>T
ENST00000683456.1:c.*315C>T	ENSP00000508318.1:n.*315C>T
ENST00000683522.1:n.3247C>T
ENST00000683562.1:c.*1347C>T	ENSP00000508265.1:n.*1347C>T
ENST00000683693.1:n.3324C>T
ENST00000683725.1:c.3178C>T	ENSP00000507496.1:p.Gln1060Ter
ENST00000684010.1:n.3242C>T
ENST00000684157.1:n.3247C>T
ENST00000684253.1:n.3150C>T
ENST00000684288.1:c.*1350C>T	ENSP00000507143.1:n.*1350C>T
ENST00000684313.1:n.2679C>T
ENST00000684332.1:n.3320C>T
ENST00000684371.1:n.3353C>T
ENST00000684404.1:n.3290C>T
ENST00000684442.1:n.3247C>T
ENST00000684555.1:c.*1390C>T	ENSP00000507705.1:n.*1390C>T
ENST00000684571.1:c.3019C>T	ENSP00000506935.1:p.Gln1007Ter
ENST00000684593.1:c.*2883C>T	ENSP00000507005.1:n.*2883C>T
ENST00000684711.1:c.*1574C>T	ENSP00000506841.1:n.*1574C>T
ENST00000302539.9:c.3181C>T	ENSP00000303960.4:p.Gln1061Ter
ENST00000389817.8:c.3178C>T MANE Select	ENSP00000374467.4:p.Gln1060Ter
ENST00000642271.1:c.3175C>T	ENSP00000493749.1:p.Gln1059Ter
ENST00000642579.1:c.1262C>T
ENST00000642611.1:n.3132C>T
ENST00000642902.1:c.2960C>T
ENST00000643260.1:c.3178C>T	ENSP00000494450.1:p.Gln1060Ter
ENST00000643562.1:c.*1154C>T	ENSP00000496124.1:n.*1154C>T
ENST00000643925.1:c.1302C>T
ENST00000644447.1:c.1534C>T	ENSP00000496282.1:p.Gln512Ter
ENST00000644484.1:c.*1433C>T	ENSP00000493558.1:n.*1433C>T
ENST00000644542.1:c.*2982C>T	ENSP00000495532.1:n.*2982C>T
ENST00000644675.1:c.*1350C>T	ENSP00000494567.1:n.*1350C>T
ENST00000644757.1:c.*1463C>T	ENSP00000495085.1:n.*1463C>T
ENST00000644772.1:c.3244C>T	ENSP00000494321.1:p.Gln1082Ter
ENST00000645004.1:n.317C>T
ENST00000645076.1:c.2377C>T
ENST00000645417.1:c.344C>T
ENST00000645744.1:c.*1442C>T	ENSP00000494564.1:n.*1442C>T
ENST00000645760.1:c.3453C>T
ENST00000645884.1:c.*315C>T	ENSP00000495516.1:n.*315C>T
ENST00000646003.1:c.*1134C>T	ENSP00000495259.1:n.*1134C>T
ENST00000646207.1:c.*1645C>T	ENSP00000495025.1:n.*1645C>T
ENST00000646276.1:c.*1451C>T	ENSP00000496070.1:n.*1451C>T
ENST00000646592.1:c.2484C>T
ENST00000646902.1:c.3175C>T	ENSP00000494101.1:p.Gln1059Ter
ENST00000646993.1:c.*1574C>T	ENSP00000493720.1:n.*1574C>T
ENST00000647013.1:c.3184C>T	ENSP00000496741.1:n.3184C>T
ENST00000647015.1:c.2929C>T	ENSP00000495389.1:p.Gln977Ter
ENST00000647086.1:c.*2908C>T	ENSP00000493677.1:n.*2908C>T
ENST00000647158.1:c.*1319C>T	ENSP00000495744.1:n.*1319C>T
ENST00000302539.8:c.3181C>T	ENSP00000303960.4:p.Gln1061Ter
ENST00000389817.7:c.3178C>T	ENSP00000374467.3:p.Gln1060Ter
ENST00000524561.1:n.310C>T
ENST00000526921.5:n.862C>T
ENST00000527905.5:c.*54C>T	ENSP00000431653.1:n.*54C>T
NM_000352.4:c.3178C>T	NP_000343.2:p.Gln1060Ter
NM_001287174.1:c.3181C>T	NP_001274103.1:p.Gln1061Ter
XM_011520331.1:c.3178C>T	XP_011518633.1:p.Gln1060Ter
XM_011520332.1:c.3181C>T	XP_011518634.1:p.Gln1061Ter
XM_011520333.1:c.1678C>T	XP_011518635.1:p.Gln560Ter
XR_930890.1:n.3244C>T
XR_930891.1:n.3244C>T
XR_930892.1:n.3144C>T
XR_930893.1:n.3141C>T
NM_001351295.1:c.3244C>T	NP_001338224.1:p.Gln1082Ter
NM_001351296.1:c.3178C>T	NP_001338225.1:p.Gln1060Ter
NM_001351297.1:c.3175C>T	NP_001338226.1:p.Gln1059Ter
NR_147094.1:n.3327C>T
XM_017018197.2:c.3247C>T	XP_016873686.1:p.Gln1083Ter
XM_017018199.1:c.3244C>T	XP_016873688.1:p.Gln1082Ter
XM_017018201.2:c.3247C>T	XP_016873690.1:p.Gln1083Ter
XM_017018202.1:c.1744C>T	XP_016873691.1:p.Gln582Ter
XM_017018204.1:c.1135C>T	XP_016873693.1:p.Gln379Ter
XM_024448668.1:c.1546C>T	XP_024304436.1:p.Gln516Ter
XR_001747945.2:n.3319C>T
XR_001747946.2:n.3250C>T
XR_002957189.1:n.3399C>T
NM_000352.6:c.3178C>T MANE Select	NP_000343.2:p.Gln1060Ter
NM_001287174.2:c.3181C>T	NP_001274103.1:p.Gln1061Ter
NM_001351295.2:c.3244C>T	NP_001338224.1:p.Gln1082Ter
NM_001351296.2:c.3178C>T	NP_001338225.1:p.Gln1060Ter
NM_001351297.2:c.3175C>T	NP_001338226.1:p.Gln1059Ter
NR_147094.2:n.3327C>T
NM_001287174.3:c.3181C>T	NP_001274103.1:p.Gln1061Ter