Canonical Allele Identifier: CA473298541

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418529C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396982C>A , CM000673.2:g.17396982C>A	GRCh38
NC_000011.9:g.17418529C>A , CM000673.1:g.17418529C>A	GRCh37
NC_000011.8:g.17375105C>A	NCBI36
NG_008867.1:g.84921G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3654G>T
ENST00000528374.2:c.644G>T
ENST00000529967.6:n.2392G>T
ENST00000532220.2:n.2301G>T
ENST00000642611.2:n.4268G>T
ENST00000644057.2:n.496G>T
ENST00000645004.2:n.1552G>T
ENST00000682051.1:n.4215G>T
ENST00000682110.1:n.4268G>T
ENST00000682140.1:c.3985+211G>T	ENSP00000507829.1:n.3985+211G>T
ENST00000682185.1:n.5358G>T
ENST00000682204.1:c.*2191G>T	ENSP00000507094.1:n.*2191G>T
ENST00000682215.1:n.4635G>T
ENST00000682288.1:c.*2484G>T	ENSP00000507506.1:n.*2484G>T
ENST00000682442.1:n.4488G>T
ENST00000682528.1:n.4345G>T
ENST00000682673.1:n.4212G>T
ENST00000682805.1:n.4635G>T
ENST00000682965.1:c.*475G>T	ENSP00000508229.1:n.*475G>T
ENST00000683093.1:n.4367G>T
ENST00000683136.1:c.3936G>T	ENSP00000507768.1:p.Val1312=
ENST00000683153.1:n.4310G>T
ENST00000683365.1:n.4370G>T
ENST00000683377.1:n.4268G>T
ENST00000683456.1:c.*1190G>T	ENSP00000508318.1:n.*1190G>T
ENST00000683522.1:n.4268G>T
ENST00000683562.1:c.*2222G>T	ENSP00000508265.1:n.*2222G>T
ENST00000683693.1:n.4715G>T
ENST00000683725.1:c.4053G>T	ENSP00000507496.1:p.Val1351=
ENST00000684010.1:n.4263G>T
ENST00000684157.1:n.4268G>T
ENST00000684253.1:n.4171G>T
ENST00000684288.1:c.*2225G>T	ENSP00000507143.1:n.*2225G>T
ENST00000684313.1:n.3700G>T
ENST00000684332.1:n.4341G>T
ENST00000684371.1:n.4374G>T
ENST00000684404.1:n.4311G>T
ENST00000684442.1:n.4492G>T
ENST00000684555.1:c.*2265G>T	ENSP00000507705.1:n.*2265G>T
ENST00000684571.1:c.3894G>T	ENSP00000506935.1:p.Val1298=
ENST00000684593.1:c.*3758G>T	ENSP00000507005.1:n.*3758G>T
ENST00000684711.1:c.*2449G>T	ENSP00000506841.1:n.*2449G>T
ENST00000302539.9:c.4056G>T	ENSP00000303960.4:p.Val1352=
ENST00000389817.8:c.4053G>T MANE Select	ENSP00000374467.4:p.Val1351=
ENST00000642271.1:c.4050G>T	ENSP00000493749.1:p.Val1350=
ENST00000642579.1:c.2107G>T
ENST00000642611.1:n.4153G>T
ENST00000642902.1:c.3835G>T
ENST00000643260.1:c.4053G>T	ENSP00000494450.1:p.Val1351=
ENST00000643562.1:c.*2175G>T	ENSP00000496124.1:n.*2175G>T
ENST00000643925.1:c.2693G>T
ENST00000644057.1:n.130G>T
ENST00000644484.1:c.*2454G>T	ENSP00000493558.1:n.*2454G>T
ENST00000644675.1:c.*2225G>T	ENSP00000494567.1:n.*2225G>T
ENST00000644757.1:c.*2484G>T	ENSP00000495085.1:n.*2484G>T
ENST00000644772.1:c.4119G>T	ENSP00000494321.1:p.Val1373=
ENST00000645004.1:n.1708G>T
ENST00000645076.1:c.3252G>T
ENST00000645417.1:c.1241G>T
ENST00000645744.1:c.*2833G>T	ENSP00000494564.1:n.*2833G>T
ENST00000645760.1:c.4474G>T
ENST00000645884.1:c.*1336G>T	ENSP00000495516.1:n.*1336G>T
ENST00000646003.1:c.*2155G>T	ENSP00000495259.1:n.*2155G>T
ENST00000646207.1:c.*2890G>T	ENSP00000495025.1:n.*2890G>T
ENST00000646276.1:c.*2472G>T	ENSP00000496070.1:n.*2472G>T
ENST00000646592.1:c.3359G>T
ENST00000646902.1:c.4020G>T	ENSP00000494101.1:p.Val1340=
ENST00000646993.1:c.*2595G>T	ENSP00000493720.1:n.*2595G>T
ENST00000647013.1:c.4059G>T	ENSP00000496741.1:n.4059G>T
ENST00000647015.1:c.3804G>T	ENSP00000495389.1:p.Val1268=
ENST00000647086.1:c.*3639G>T	ENSP00000493677.1:n.*3639G>T
ENST00000647158.1:c.*2340G>T	ENSP00000495744.1:n.*2340G>T
ENST00000302539.8:c.4056G>T	ENSP00000303960.4:p.Val1352=
ENST00000389817.7:c.4053G>T	ENSP00000374467.3:p.Val1351=
ENST00000527905.5:c.*1075G>T	ENSP00000431653.1:n.*1075G>T
ENST00000528374.1:c.535G>T
ENST00000531137.1:n.618G>T
ENST00000531891.1:c.391G>T
ENST00000532220.1:n.527G>T
NM_000352.4:c.4053G>T	NP_000343.2:p.Val1351=
NM_001287174.1:c.4056G>T	NP_001274103.1:p.Val1352=
XM_011520331.1:c.4053G>T	XP_011518633.1:p.Val1351=
XM_011520332.1:c.4056G>T	XP_011518634.1:p.Val1352=
XM_011520333.1:c.2553G>T	XP_011518635.1:p.Val851=
XR_930890.1:n.4119G>T
NM_001351295.1:c.4119G>T	NP_001338224.1:p.Val1373=
NM_001351296.1:c.4053G>T	NP_001338225.1:p.Val1351=
NM_001351297.1:c.4050G>T	NP_001338226.1:p.Val1350=
NR_147094.1:n.4348G>T
XM_017018197.2:c.4122G>T	XP_016873686.1:p.Val1374=
XM_017018199.1:c.4119G>T	XP_016873688.1:p.Val1373=
XM_017018201.2:c.4122G>T	XP_016873690.1:p.Val1374=
XM_017018202.1:c.2619G>T	XP_016873691.1:p.Val873=
XM_017018204.1:c.2010G>T	XP_016873693.1:p.Val670=
XM_024448668.1:c.2421G>T	XP_024304436.1:p.Val807=
XR_001747945.2:n.4194G>T
XR_001747946.2:n.4125G>T
XR_002957189.1:n.4790G>T
NM_000352.6:c.4053G>T MANE Select	NP_000343.2:p.Val1351=
NM_001287174.2:c.4056G>T	NP_001274103.1:p.Val1352=
NM_001351295.2:c.4119G>T	NP_001338224.1:p.Val1373=
NM_001351296.2:c.4053G>T	NP_001338225.1:p.Val1351=
NM_001351297.2:c.4050G>T	NP_001338226.1:p.Val1350=
NR_147094.2:n.4348G>T
NM_001287174.3:c.4056G>T	NP_001274103.1:p.Val1352=