Canonical Allele Identifier: CA473298569

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418583C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397036C>A , CM000673.2:g.17397036C>A	GRCh38
NC_000011.9:g.17418583C>A , CM000673.1:g.17418583C>A	GRCh37
NC_000011.8:g.17375159C>A	NCBI36
NG_008867.1:g.84867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3600G>T
ENST00000528374.2:c.590G>T
ENST00000529967.6:n.2338G>T
ENST00000532220.2:n.2247G>T
ENST00000642611.2:n.4214G>T
ENST00000644057.2:n.442G>T
ENST00000645004.2:n.1498G>T
ENST00000682051.1:n.4161G>T
ENST00000682110.1:n.4214G>T
ENST00000682140.1:c.3985+157G>T	ENSP00000507829.1:n.3985+157G>T
ENST00000682185.1:n.5304G>T
ENST00000682204.1:c.*2137G>T	ENSP00000507094.1:n.*2137G>T
ENST00000682215.1:n.4581G>T
ENST00000682288.1:c.*2430G>T	ENSP00000507506.1:n.*2430G>T
ENST00000682442.1:n.4434G>T
ENST00000682528.1:n.4291G>T
ENST00000682673.1:n.4158G>T
ENST00000682805.1:n.4581G>T
ENST00000682965.1:c.*421G>T	ENSP00000508229.1:n.*421G>T
ENST00000683093.1:n.4313G>T
ENST00000683136.1:c.3882G>T	ENSP00000507768.1:p.Leu1294=
ENST00000683153.1:n.4256G>T
ENST00000683365.1:n.4316G>T
ENST00000683377.1:n.4214G>T
ENST00000683456.1:c.*1136G>T	ENSP00000508318.1:n.*1136G>T
ENST00000683522.1:n.4214G>T
ENST00000683562.1:c.*2168G>T	ENSP00000508265.1:n.*2168G>T
ENST00000683693.1:n.4661G>T
ENST00000683725.1:c.3999G>T	ENSP00000507496.1:p.Leu1333=
ENST00000684010.1:n.4209G>T
ENST00000684157.1:n.4214G>T
ENST00000684253.1:n.4117G>T
ENST00000684288.1:c.*2171G>T	ENSP00000507143.1:n.*2171G>T
ENST00000684313.1:n.3646G>T
ENST00000684332.1:n.4287G>T
ENST00000684371.1:n.4320G>T
ENST00000684404.1:n.4257G>T
ENST00000684442.1:n.4438G>T
ENST00000684555.1:c.*2211G>T	ENSP00000507705.1:n.*2211G>T
ENST00000684571.1:c.3840G>T	ENSP00000506935.1:p.Leu1280=
ENST00000684593.1:c.*3704G>T	ENSP00000507005.1:n.*3704G>T
ENST00000684711.1:c.*2395G>T	ENSP00000506841.1:n.*2395G>T
ENST00000302539.9:c.4002G>T	ENSP00000303960.4:p.Leu1334=
ENST00000389817.8:c.3999G>T MANE Select	ENSP00000374467.4:p.Leu1333=
ENST00000642271.1:c.3996G>T	ENSP00000493749.1:p.Leu1332=
ENST00000642579.1:c.2073-20G>T
ENST00000642611.1:n.4099G>T
ENST00000642902.1:c.3781G>T
ENST00000643260.1:c.3999G>T	ENSP00000494450.1:p.Leu1333=
ENST00000643562.1:c.*2121G>T	ENSP00000496124.1:n.*2121G>T
ENST00000643925.1:c.2639G>T
ENST00000644057.1:n.76G>T
ENST00000644484.1:c.*2400G>T	ENSP00000493558.1:n.*2400G>T
ENST00000644675.1:c.*2171G>T	ENSP00000494567.1:n.*2171G>T
ENST00000644757.1:c.*2430G>T	ENSP00000495085.1:n.*2430G>T
ENST00000644772.1:c.4065G>T	ENSP00000494321.1:p.Leu1355=
ENST00000645004.1:n.1654G>T
ENST00000645076.1:c.3198G>T
ENST00000645417.1:c.1187G>T
ENST00000645744.1:c.*2779G>T	ENSP00000494564.1:n.*2779G>T
ENST00000645760.1:c.4420G>T
ENST00000645884.1:c.*1282G>T	ENSP00000495516.1:n.*1282G>T
ENST00000646003.1:c.*2101G>T	ENSP00000495259.1:n.*2101G>T
ENST00000646207.1:c.*2836G>T	ENSP00000495025.1:n.*2836G>T
ENST00000646276.1:c.*2418G>T	ENSP00000496070.1:n.*2418G>T
ENST00000646592.1:c.3305G>T
ENST00000646902.1:c.3986-20G>T	ENSP00000494101.1:n.3986-20G>T
ENST00000646993.1:c.*2541G>T	ENSP00000493720.1:n.*2541G>T
ENST00000647013.1:c.4005G>T	ENSP00000496741.1:n.4005G>T
ENST00000647015.1:c.3750G>T	ENSP00000495389.1:p.Leu1250=
ENST00000647086.1:c.*3605-20G>T	ENSP00000493677.1:n.*3605-20G>T
ENST00000647158.1:c.*2286G>T	ENSP00000495744.1:n.*2286G>T
ENST00000302539.8:c.4002G>T	ENSP00000303960.4:p.Leu1334=
ENST00000389817.7:c.3999G>T	ENSP00000374467.3:p.Leu1333=
ENST00000527905.5:c.*1021G>T	ENSP00000431653.1:n.*1021G>T
ENST00000528374.1:c.481G>T
ENST00000531137.1:n.564G>T
ENST00000531891.1:c.357-20G>T
ENST00000532220.1:n.473G>T
NM_000352.4:c.3999G>T	NP_000343.2:p.Leu1333=
NM_001287174.1:c.4002G>T	NP_001274103.1:p.Leu1334=
XM_011520331.1:c.3999G>T	XP_011518633.1:p.Leu1333=
XM_011520332.1:c.4002G>T	XP_011518634.1:p.Leu1334=
XM_011520333.1:c.2499G>T	XP_011518635.1:p.Leu833=
XR_930890.1:n.4065G>T
NM_001351295.1:c.4065G>T	NP_001338224.1:p.Leu1355=
NM_001351296.1:c.3999G>T	NP_001338225.1:p.Leu1333=
NM_001351297.1:c.3996G>T	NP_001338226.1:p.Leu1332=
NR_147094.1:n.4294G>T
XM_017018197.2:c.4068G>T	XP_016873686.1:p.Leu1356=
XM_017018199.1:c.4065G>T	XP_016873688.1:p.Leu1355=
XM_017018201.2:c.4068G>T	XP_016873690.1:p.Leu1356=
XM_017018202.1:c.2565G>T	XP_016873691.1:p.Leu855=
XM_017018204.1:c.1956G>T	XP_016873693.1:p.Leu652=
XM_024448668.1:c.2367G>T	XP_024304436.1:p.Leu789=
XR_001747945.2:n.4140G>T
XR_001747946.2:n.4071G>T
XR_002957189.1:n.4736G>T
NM_000352.6:c.3999G>T MANE Select	NP_000343.2:p.Leu1333=
NM_001287174.2:c.4002G>T	NP_001274103.1:p.Leu1334=
NM_001351295.2:c.4065G>T	NP_001338224.1:p.Leu1355=
NM_001351296.2:c.3999G>T	NP_001338225.1:p.Leu1333=
NM_001351297.2:c.3996G>T	NP_001338226.1:p.Leu1332=
NR_147094.2:n.4294G>T
NM_001287174.3:c.4002G>T	NP_001274103.1:p.Leu1334=