Canonical Allele Identifier: CA379785515

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17416776C>T (hg19) ; chr11:g.17395229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395229C>T , CM000673.2:g.17395229C>T	GRCh38
NC_000011.9:g.17416776C>T , CM000673.1:g.17416776C>T	GRCh37
NC_000011.8:g.17373352C>T	NCBI36
NG_008867.1:g.86674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3955G>A
ENST00000526037.6:n.289G>A
ENST00000528374.2:c.945G>A
ENST00000529967.6:n.2693G>A
ENST00000532220.2:n.3587G>A
ENST00000642611.2:n.5687G>A
ENST00000644057.2:n.930G>A
ENST00000645004.2:n.1853G>A
ENST00000682051.1:n.4516G>A
ENST00000682110.1:n.4569G>A
ENST00000682140.1:c.*140G>A	ENSP00000507829.1:n.*140G>A
ENST00000682185.1:n.5659G>A
ENST00000682204.1:c.*2492G>A	ENSP00000507094.1:n.*2492G>A
ENST00000682215.1:n.4936G>A
ENST00000682288.1:c.*2785G>A	ENSP00000507506.1:n.*2785G>A
ENST00000682442.1:n.4789G>A
ENST00000682528.1:n.4646G>A
ENST00000682673.1:n.4513G>A
ENST00000682805.1:n.4974G>A
ENST00000682965.1:c.*776G>A	ENSP00000508229.1:n.*776G>A
ENST00000683093.1:n.5606+381G>A
ENST00000683136.1:c.4237G>A	ENSP00000507768.1:p.Glu1413Lys
ENST00000683153.1:n.4611G>A
ENST00000683365.1:n.4671G>A
ENST00000683377.1:n.4522+381G>A
ENST00000683456.1:c.*1491G>A	ENSP00000508318.1:n.*1491G>A
ENST00000683522.1:n.4569G>A
ENST00000683562.1:c.*2476+381G>A	ENSP00000508265.1:n.*2476+381G>A
ENST00000683693.1:n.6087+381G>A
ENST00000683725.1:c.4307+381G>A	ENSP00000507496.1:n.4307+381G>A
ENST00000684010.1:n.4564G>A
ENST00000684157.1:n.5554G>A
ENST00000684253.1:n.4472G>A
ENST00000684288.1:c.*2526G>A	ENSP00000507143.1:n.*2526G>A
ENST00000684313.1:n.4001G>A
ENST00000684332.1:n.4642G>A
ENST00000684371.1:n.4675G>A
ENST00000684404.1:n.5597G>A
ENST00000684442.1:n.4793G>A
ENST00000684555.1:c.*2566G>A	ENSP00000507705.1:n.*2566G>A
ENST00000684571.1:c.4195G>A	ENSP00000506935.1:p.Glu1399Lys
ENST00000684593.1:c.*4059G>A	ENSP00000507005.1:n.*4059G>A
ENST00000684711.1:c.*2750G>A	ENSP00000506841.1:n.*2750G>A
ENST00000302539.9:c.4357G>A	ENSP00000303960.4:p.Glu1453Lys
ENST00000389817.8:c.4354G>A MANE Select	ENSP00000374467.4:p.Glu1452Lys
ENST00000642271.1:c.4351G>A	ENSP00000493749.1:p.Glu1451Lys
ENST00000642579.1:c.2408G>A
ENST00000642611.1:n.5572G>A
ENST00000642902.1:c.4136G>A
ENST00000643260.1:c.4354G>A	ENSP00000494450.1:p.Glu1452Lys
ENST00000643562.1:c.*2476G>A	ENSP00000496124.1:n.*2476G>A
ENST00000643925.1:c.2994G>A
ENST00000644057.1:n.431G>A
ENST00000644484.1:c.*3740G>A	ENSP00000493558.1:n.*3740G>A
ENST00000644675.1:c.*2526G>A	ENSP00000494567.1:n.*2526G>A
ENST00000644757.1:c.*3202+1035G>A	ENSP00000495085.1:n.*3202+1035G>A
ENST00000644772.1:c.4420G>A	ENSP00000494321.1:p.Glu1474Lys
ENST00000645004.1:n.2047G>A
ENST00000645076.1:c.3506+381G>A
ENST00000645417.1:c.1542G>A
ENST00000645744.1:c.*4039G>A	ENSP00000494564.1:n.*4039G>A
ENST00000645760.1:c.4775G>A
ENST00000645884.1:c.*1637G>A	ENSP00000495516.1:n.*1637G>A
ENST00000646003.1:c.*2376G>A	ENSP00000495259.1:n.*2376G>A
ENST00000646207.1:c.*3191G>A	ENSP00000495025.1:n.*3191G>A
ENST00000646276.1:c.*3758G>A	ENSP00000496070.1:n.*3758G>A
ENST00000646592.1:c.3660G>A
ENST00000646902.1:c.4321G>A	ENSP00000494101.1:p.Glu1441Lys
ENST00000646993.1:c.*2849+381G>A	ENSP00000493720.1:n.*2849+381G>A
ENST00000647013.1:c.4360G>A	ENSP00000496741.1:n.4360G>A
ENST00000647015.1:c.4105G>A	ENSP00000495389.1:p.Glu1369Lys
ENST00000647086.1:c.*3940G>A	ENSP00000493677.1:n.*3940G>A
ENST00000647158.1:c.*2641G>A	ENSP00000495744.1:n.*2641G>A
ENST00000302539.8:c.4357G>A	ENSP00000303960.4:p.Glu1453Lys
ENST00000389817.7:c.4354G>A	ENSP00000374467.3:p.Glu1452Lys
ENST00000525022.1:n.306+381G>A
ENST00000526037.5:n.171+381G>A
ENST00000526168.5:c.142G>A
ENST00000531642.5:c.385G>A
NM_000352.4:c.4354G>A	NP_000343.2:p.Glu1452Lys
NM_001287174.1:c.4357G>A	NP_001274103.1:p.Glu1453Lys
XM_011520331.1:c.4354G>A	XP_011518633.1:p.Glu1452Lys
XM_011520332.1:c.4310+381G>A	XP_011518634.1:n.4310+381G>A
XM_011520333.1:c.2854G>A	XP_011518635.1:p.Glu952Lys
XR_930890.1:n.4373+381G>A
NM_001351295.1:c.4420G>A	NP_001338224.1:p.Glu1474Lys
NM_001351296.1:c.4354G>A	NP_001338225.1:p.Glu1452Lys
NM_001351297.1:c.4351G>A	NP_001338226.1:p.Glu1451Lys
NR_147094.1:n.4649G>A
XM_017018197.2:c.4423G>A	XP_016873686.1:p.Glu1475Lys
XM_017018199.1:c.4420G>A	XP_016873688.1:p.Glu1474Lys
XM_017018201.2:c.4376+381G>A	XP_016873690.1:n.4376+381G>A
XM_017018202.1:c.2920G>A	XP_016873691.1:p.Glu974Lys
XM_017018204.1:c.2311G>A	XP_016873693.1:p.Glu771Lys
XM_024448668.1:c.2722G>A	XP_024304436.1:p.Glu908Lys
XR_001747945.2:n.4448+381G>A
XR_001747946.2:n.4379+381G>A
XR_002957189.1:n.6162+381G>A
NM_000352.6:c.4354G>A MANE Select	NP_000343.2:p.Glu1452Lys
NM_001287174.2:c.4357G>A	NP_001274103.1:p.Glu1453Lys
NM_001351295.2:c.4420G>A	NP_001338224.1:p.Glu1474Lys
NM_001351296.2:c.4354G>A	NP_001338225.1:p.Glu1452Lys
NM_001351297.2:c.4351G>A	NP_001338226.1:p.Glu1451Lys
NR_147094.2:n.4649G>A
NM_001287174.3:c.4357G>A	NP_001274103.1:p.Glu1453Lys