Canonical Allele Identifier: CA379786862

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395679G>A , CM000673.2:g.17395679G>A	GRCh38
NC_000011.9:g.17417226G>A , CM000673.1:g.17417226G>A	GRCh37
NC_000011.8:g.17373802G>A	NCBI36
NG_008867.1:g.86224C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4238C>T MANE Select	NP_000343.2:p.Pro1413Leu
ENST00000389817.8:c.4238C>T MANE Select	ENSP00000374467.4:p.Pro1413Leu
NM_000352.4:c.4238C>T	NP_000343.2:p.Pro1413Leu
NM_001287174.1:c.4241C>T	NP_001274103.1:p.Pro1414Leu
NM_001287174.2:c.4241C>T	NP_001274103.1:p.Pro1414Leu
NM_001287174.3:c.4241C>T	NP_001274103.1:p.Pro1414Leu
NM_001351295.1:c.4304C>T	NP_001338224.1:p.Pro1435Leu
NM_001351295.2:c.4304C>T	NP_001338224.1:p.Pro1435Leu
NM_001351296.1:c.4238C>T	NP_001338225.1:p.Pro1413Leu
NM_001351296.2:c.4238C>T	NP_001338225.1:p.Pro1413Leu
NM_001351297.1:c.4235C>T	NP_001338226.1:p.Pro1412Leu
NM_001351297.2:c.4235C>T	NP_001338226.1:p.Pro1412Leu
NR_147094.1:n.4533C>T
NR_147094.2:n.4533C>T
ENST00000302539.8:c.4241C>T	ENSP00000303960.4:p.Pro1414Leu
ENST00000302539.9:c.4241C>T	ENSP00000303960.4:p.Pro1414Leu
ENST00000389817.7:c.4238C>T	ENSP00000374467.3:p.Pro1413Leu
ENST00000524561.2:n.3839C>T
ENST00000525022.1:n.237C>T
ENST00000526037.5:n.102C>T
ENST00000526168.5:c.67-41C>T
ENST00000528374.2:c.829C>T
ENST00000529967.6:n.2577C>T
ENST00000531642.5:c.74C>T
ENST00000532220.2:n.3471C>T
ENST00000642271.1:c.4235C>T	ENSP00000493749.1:p.Pro1412Leu
ENST00000642579.1:c.2292C>T
ENST00000642611.1:n.5456C>T
ENST00000642611.2:n.5571C>T
ENST00000642902.1:c.4020C>T
ENST00000643260.1:c.4238C>T	ENSP00000494450.1:p.Pro1413Leu
ENST00000643562.1:c.*2360C>T	ENSP00000496124.1:n.*2360C>T
ENST00000643925.1:c.2878C>T
ENST00000644057.1:n.315C>T
ENST00000644057.2:n.814C>T
ENST00000644484.1:c.*3624C>T	ENSP00000493558.1:n.*3624C>T
ENST00000644675.1:c.*2410C>T	ENSP00000494567.1:n.*2410C>T
ENST00000644757.1:c.*3202+585C>T	ENSP00000495085.1:n.*3202+585C>T
ENST00000644772.1:c.4304C>T	ENSP00000494321.1:p.Pro1435Leu
ENST00000645004.1:n.1931C>T
ENST00000645004.2:n.1737C>T
ENST00000645076.1:c.3437C>T
ENST00000645417.1:c.1426C>T
ENST00000645744.1:c.*3964-41C>T	ENSP00000494564.1:n.*3964-41C>T
ENST00000645760.1:c.4659C>T
ENST00000645884.1:c.*1521C>T	ENSP00000495516.1:n.*1521C>T
ENST00000646003.1:c.*2301-41C>T	ENSP00000495259.1:n.*2301-41C>T
ENST00000646207.1:c.*3075C>T	ENSP00000495025.1:n.*3075C>T
ENST00000646276.1:c.*3642C>T	ENSP00000496070.1:n.*3642C>T
ENST00000646592.1:c.3544C>T
ENST00000646902.1:c.4205C>T	ENSP00000494101.1:p.Pro1402Leu
ENST00000646993.1:c.*2780C>T	ENSP00000493720.1:n.*2780C>T
ENST00000647013.1:c.4244C>T	ENSP00000496741.1:n.4244C>T
ENST00000647015.1:c.3989C>T	ENSP00000495389.1:p.Pro1330Leu
ENST00000647086.1:c.*3824C>T	ENSP00000493677.1:n.*3824C>T
ENST00000647158.1:c.*2525C>T	ENSP00000495744.1:n.*2525C>T
ENST00000682051.1:n.4400C>T
ENST00000682110.1:n.4453C>T
ENST00000682140.1:c.*24C>T	ENSP00000507829.1:n.*24C>T
ENST00000682185.1:n.5543C>T
ENST00000682204.1:c.*2376C>T	ENSP00000507094.1:n.*2376C>T
ENST00000682215.1:n.4820C>T
ENST00000682288.1:c.*2669C>T	ENSP00000507506.1:n.*2669C>T
ENST00000682442.1:n.4673C>T
ENST00000682528.1:n.4530C>T
ENST00000682673.1:n.4397C>T
ENST00000682805.1:n.4858C>T
ENST00000682965.1:c.*660C>T	ENSP00000508229.1:n.*660C>T
ENST00000683093.1:n.5537C>T
ENST00000683136.1:c.4121C>T	ENSP00000507768.1:p.Pro1374Leu
ENST00000683153.1:n.4495C>T
ENST00000683365.1:n.4555C>T
ENST00000683377.1:n.4453C>T
ENST00000683456.1:c.*1375C>T	ENSP00000508318.1:n.*1375C>T
ENST00000683522.1:n.4453C>T
ENST00000683562.1:c.*2407C>T	ENSP00000508265.1:n.*2407C>T
ENST00000683693.1:n.6018C>T
ENST00000683725.1:c.4238C>T	ENSP00000507496.1:p.Pro1413Leu
ENST00000684010.1:n.4448C>T
ENST00000684157.1:n.5438C>T
ENST00000684253.1:n.4356C>T
ENST00000684288.1:c.*2410C>T	ENSP00000507143.1:n.*2410C>T
ENST00000684313.1:n.3885C>T
ENST00000684332.1:n.4526C>T
ENST00000684371.1:n.4559C>T
ENST00000684404.1:n.5481C>T
ENST00000684442.1:n.4677C>T
ENST00000684555.1:c.*2450C>T	ENSP00000507705.1:n.*2450C>T
ENST00000684571.1:c.4079C>T	ENSP00000506935.1:p.Pro1360Leu
ENST00000684593.1:c.*3943C>T	ENSP00000507005.1:n.*3943C>T
ENST00000684711.1:c.*2634C>T	ENSP00000506841.1:n.*2634C>T
XM_011520331.1:c.4238C>T	XP_011518633.1:p.Pro1413Leu
XM_011520332.1:c.4241C>T	XP_011518634.1:p.Pro1414Leu
XM_011520333.1:c.2738C>T	XP_011518635.1:p.Pro913Leu
XM_017018197.2:c.4307C>T	XP_016873686.1:p.Pro1436Leu
XM_017018199.1:c.4304C>T	XP_016873688.1:p.Pro1435Leu
XM_017018201.2:c.4307C>T	XP_016873690.1:p.Pro1436Leu
XM_017018202.1:c.2804C>T	XP_016873691.1:p.Pro935Leu
XM_017018204.1:c.2195C>T	XP_016873693.1:p.Pro732Leu
XM_024448668.1:c.2606C>T	XP_024304436.1:p.Pro869Leu
XR_001747945.2:n.4379C>T
XR_001747946.2:n.4310C>T
XR_002957189.1:n.6093C>T
XR_930890.1:n.4304C>T