Canonical Allele Identifier: CA379792181

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397262G>A , CM000673.2:g.17397262G>A	GRCh38
NC_000011.9:g.17418809G>A , CM000673.1:g.17418809G>A	GRCh37
NC_000011.8:g.17375385G>A	NCBI36
NG_008867.1:g.84641C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3919C>T MANE Select	NP_000343.2:p.Gln1307Ter
ENST00000389817.8:c.3919C>T MANE Select	ENSP00000374467.4:p.Gln1307Ter
NM_000352.4:c.3919C>T	NP_000343.2:p.Gln1307Ter
NM_001287174.1:c.3922C>T	NP_001274103.1:p.Gln1308Ter
NM_001287174.2:c.3922C>T	NP_001274103.1:p.Gln1308Ter
NM_001287174.3:c.3922C>T	NP_001274103.1:p.Gln1308Ter
NM_001351295.1:c.3985C>T	NP_001338224.1:p.Gln1329Ter
NM_001351295.2:c.3985C>T	NP_001338224.1:p.Gln1329Ter
NM_001351296.1:c.3919C>T	NP_001338225.1:p.Gln1307Ter
NM_001351296.2:c.3919C>T	NP_001338225.1:p.Gln1307Ter
NM_001351297.1:c.3916C>T	NP_001338226.1:p.Gln1306Ter
NM_001351297.2:c.3916C>T	NP_001338226.1:p.Gln1306Ter
NR_147094.1:n.4068C>T
NR_147094.2:n.4068C>T
ENST00000302539.8:c.3922C>T	ENSP00000303960.4:p.Gln1308Ter
ENST00000302539.9:c.3922C>T	ENSP00000303960.4:p.Gln1308Ter
ENST00000389817.7:c.3919C>T	ENSP00000374467.3:p.Gln1307Ter
ENST00000524561.2:n.3374C>T
ENST00000527905.5:c.*795C>T	ENSP00000431653.1:n.*795C>T
ENST00000528374.1:c.389C>T
ENST00000528374.2:c.498C>T
ENST00000529967.6:n.2258C>T
ENST00000531137.1:n.338C>T
ENST00000531891.1:c.287C>T
ENST00000532220.1:n.247C>T
ENST00000532220.2:n.2021C>T
ENST00000642271.1:c.3916C>T	ENSP00000493749.1:p.Gln1306Ter
ENST00000642579.1:c.2003C>T
ENST00000642611.1:n.3873C>T
ENST00000642611.2:n.3988C>T
ENST00000642902.1:c.3701C>T
ENST00000643260.1:c.3919C>T	ENSP00000494450.1:p.Gln1307Ter
ENST00000643562.1:c.*1895C>T	ENSP00000496124.1:n.*1895C>T
ENST00000643925.1:c.2413C>T
ENST00000644057.2:n.362C>T
ENST00000644447.1:c.2370C>T	ENSP00000496282.1:n.2370C>T
ENST00000644484.1:c.*2174C>T	ENSP00000493558.1:n.*2174C>T
ENST00000644675.1:c.*2091C>T	ENSP00000494567.1:n.*2091C>T
ENST00000644757.1:c.*2204C>T	ENSP00000495085.1:n.*2204C>T
ENST00000644772.1:c.3985C>T	ENSP00000494321.1:p.Gln1329Ter
ENST00000645004.1:n.1428C>T
ENST00000645004.2:n.1418C>T
ENST00000645076.1:c.3118C>T
ENST00000645417.1:c.1107C>T
ENST00000645744.1:c.*2553C>T	ENSP00000494564.1:n.*2553C>T
ENST00000645760.1:c.4194C>T
ENST00000645884.1:c.*1056C>T	ENSP00000495516.1:n.*1056C>T
ENST00000646003.1:c.*1875C>T	ENSP00000495259.1:n.*1875C>T
ENST00000646207.1:c.*2756C>T	ENSP00000495025.1:n.*2756C>T
ENST00000646276.1:c.*2192C>T	ENSP00000496070.1:n.*2192C>T
ENST00000646592.1:c.3225C>T
ENST00000646902.1:c.3916C>T	ENSP00000494101.1:p.Gln1306Ter
ENST00000646993.1:c.*2315C>T	ENSP00000493720.1:n.*2315C>T
ENST00000647013.1:c.3925C>T	ENSP00000496741.1:n.3925C>T
ENST00000647015.1:c.3670C>T	ENSP00000495389.1:p.Gln1224Ter
ENST00000647086.1:c.*3535C>T	ENSP00000493677.1:n.*3535C>T
ENST00000647158.1:c.*2060C>T	ENSP00000495744.1:n.*2060C>T
ENST00000682051.1:n.3935C>T
ENST00000682110.1:n.3988C>T
ENST00000682140.1:c.3916C>T	ENSP00000507829.1:p.Gln1306Ter
ENST00000682185.1:n.5224C>T
ENST00000682204.1:c.*2057C>T	ENSP00000507094.1:n.*2057C>T
ENST00000682215.1:n.4355C>T
ENST00000682288.1:c.*2350C>T	ENSP00000507506.1:n.*2350C>T
ENST00000682442.1:n.4208C>T
ENST00000682528.1:n.4065C>T
ENST00000682673.1:n.3932C>T
ENST00000682805.1:n.4355C>T
ENST00000682965.1:c.*341C>T	ENSP00000508229.1:n.*341C>T
ENST00000683093.1:n.4087C>T
ENST00000683136.1:c.3802C>T	ENSP00000507768.1:p.Gln1268Ter
ENST00000683153.1:n.4030C>T
ENST00000683365.1:n.4090C>T
ENST00000683377.1:n.3988C>T
ENST00000683456.1:c.*1056C>T	ENSP00000508318.1:n.*1056C>T
ENST00000683522.1:n.3988C>T
ENST00000683562.1:c.*2088C>T	ENSP00000508265.1:n.*2088C>T
ENST00000683693.1:n.4435C>T
ENST00000683725.1:c.3919C>T	ENSP00000507496.1:p.Gln1307Ter
ENST00000684010.1:n.3983C>T
ENST00000684157.1:n.3988C>T
ENST00000684253.1:n.3891C>T
ENST00000684288.1:c.*2091C>T	ENSP00000507143.1:n.*2091C>T
ENST00000684313.1:n.3420C>T
ENST00000684332.1:n.4061C>T
ENST00000684371.1:n.4094C>T
ENST00000684404.1:n.4031C>T
ENST00000684442.1:n.4358C>T
ENST00000684555.1:c.*2131C>T	ENSP00000507705.1:n.*2131C>T
ENST00000684571.1:c.3760C>T	ENSP00000506935.1:p.Gln1254Ter
ENST00000684593.1:c.*3624C>T	ENSP00000507005.1:n.*3624C>T
ENST00000684711.1:c.*2315C>T	ENSP00000506841.1:n.*2315C>T
XM_011520331.1:c.3919C>T	XP_011518633.1:p.Gln1307Ter
XM_011520332.1:c.3922C>T	XP_011518634.1:p.Gln1308Ter
XM_011520333.1:c.2419C>T	XP_011518635.1:p.Gln807Ter
XM_017018197.2:c.3988C>T	XP_016873686.1:p.Gln1330Ter
XM_017018199.1:c.3985C>T	XP_016873688.1:p.Gln1329Ter
XM_017018201.2:c.3988C>T	XP_016873690.1:p.Gln1330Ter
XM_017018202.1:c.2485C>T	XP_016873691.1:p.Gln829Ter
XM_017018204.1:c.1876C>T	XP_016873693.1:p.Gln626Ter
XM_024448668.1:c.2287C>T	XP_024304436.1:p.Gln763Ter
XR_001747945.2:n.4060C>T
XR_001747946.2:n.3991C>T
XR_002957189.1:n.4510C>T
XR_930890.1:n.3985C>T