Canonical Allele Identifier: CA379783441

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394358G>A , CM000673.2:g.17394358G>A	GRCh38
NC_000011.9:g.17415905G>A , CM000673.1:g.17415905G>A	GRCh37
NC_000011.8:g.17372481G>A	NCBI36
NG_008867.1:g.87545C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4453C>T MANE Select	NP_000343.2:p.Gln1485Ter
ENST00000389817.8:c.4453C>T MANE Select	ENSP00000374467.4:p.Gln1485Ter
NM_000352.4:c.4453C>T	NP_000343.2:p.Gln1485Ter
NM_001287174.1:c.4456C>T	NP_001274103.1:p.Gln1486Ter
NM_001287174.2:c.4456C>T	NP_001274103.1:p.Gln1486Ter
NM_001287174.3:c.4456C>T	NP_001274103.1:p.Gln1486Ter
NM_001351295.1:c.4519C>T	NP_001338224.1:p.Gln1507Ter
NM_001351295.2:c.4519C>T	NP_001338224.1:p.Gln1507Ter
NM_001351296.1:c.4453C>T	NP_001338225.1:p.Gln1485Ter
NM_001351296.2:c.4453C>T	NP_001338225.1:p.Gln1485Ter
NM_001351297.1:c.4450C>T	NP_001338226.1:p.Gln1484Ter
NM_001351297.2:c.4450C>T	NP_001338226.1:p.Gln1484Ter
NR_147094.1:n.4748C>T
NR_147094.2:n.4748C>T
ENST00000302539.8:c.4456C>T	ENSP00000303960.4:p.Gln1486Ter
ENST00000302539.9:c.4456C>T	ENSP00000303960.4:p.Gln1486Ter
ENST00000389817.7:c.4453C>T	ENSP00000374467.3:p.Gln1485Ter
ENST00000524561.2:n.4054C>T
ENST00000525022.1:n.348C>T
ENST00000526037.5:n.213C>T
ENST00000526037.6:n.388C>T
ENST00000526168.5:c.241C>T
ENST00000528374.2:c.1044C>T
ENST00000529967.6:n.2792C>T
ENST00000531642.5:c.484C>T
ENST00000532220.2:n.3686C>T
ENST00000642271.1:c.4450C>T	ENSP00000493749.1:p.Gln1484Ter
ENST00000642579.1:c.2507C>T
ENST00000642611.1:n.5671C>T
ENST00000642611.2:n.5786C>T
ENST00000642902.1:c.4235C>T
ENST00000643260.1:c.4453C>T	ENSP00000494450.1:p.Gln1485Ter
ENST00000643562.1:c.*2575C>T	ENSP00000496124.1:n.*2575C>T
ENST00000643925.1:c.3093C>T
ENST00000644057.1:n.612C>T
ENST00000644057.2:n.1029C>T
ENST00000644484.1:c.*3839C>T	ENSP00000493558.1:n.*3839C>T
ENST00000644675.1:c.*2625C>T	ENSP00000494567.1:n.*2625C>T
ENST00000644757.1:c.*3203-1378C>T	ENSP00000495085.1:n.*3203-1378C>T
ENST00000644772.1:c.4519C>T	ENSP00000494321.1:p.Gln1507Ter
ENST00000645004.1:n.2146C>T
ENST00000645004.2:n.1952C>T
ENST00000645076.1:c.3548C>T
ENST00000645417.1:c.1641C>T
ENST00000645744.1:c.*4138C>T	ENSP00000494564.1:n.*4138C>T
ENST00000645760.1:c.4874C>T
ENST00000645884.1:c.*1736C>T	ENSP00000495516.1:n.*1736C>T
ENST00000646003.1:c.*2475C>T	ENSP00000495259.1:n.*2475C>T
ENST00000646207.1:c.*3290C>T	ENSP00000495025.1:n.*3290C>T
ENST00000646276.1:c.*3857C>T	ENSP00000496070.1:n.*3857C>T
ENST00000646592.1:c.3759C>T
ENST00000646902.1:c.4420C>T	ENSP00000494101.1:p.Gln1474Ter
ENST00000646993.1:c.*2891C>T	ENSP00000493720.1:n.*2891C>T
ENST00000647013.1:c.4459C>T	ENSP00000496741.1:n.4459C>T
ENST00000647015.1:c.4204C>T	ENSP00000495389.1:p.Gln1402Ter
ENST00000647086.1:c.*4039C>T	ENSP00000493677.1:n.*4039C>T
ENST00000647158.1:c.*2740C>T	ENSP00000495744.1:n.*2740C>T
ENST00000682051.1:n.4615C>T
ENST00000682110.1:n.4668C>T
ENST00000682140.1:c.*239C>T	ENSP00000507829.1:n.*239C>T
ENST00000682185.1:n.5758C>T
ENST00000682204.1:c.*2591C>T	ENSP00000507094.1:n.*2591C>T
ENST00000682215.1:n.5035C>T
ENST00000682288.1:c.*2884C>T	ENSP00000507506.1:n.*2884C>T
ENST00000682442.1:n.4888C>T
ENST00000682528.1:n.4745C>T
ENST00000682673.1:n.4612C>T
ENST00000682805.1:n.5073C>T
ENST00000682965.1:c.*875C>T	ENSP00000508229.1:n.*875C>T
ENST00000683093.1:n.5648C>T
ENST00000683136.1:c.4336C>T	ENSP00000507768.1:p.Gln1446Ter
ENST00000683153.1:n.4710C>T
ENST00000683365.1:n.4770C>T
ENST00000683377.1:n.4564C>T
ENST00000683456.1:c.*1590C>T	ENSP00000508318.1:n.*1590C>T
ENST00000683522.1:n.4750C>T
ENST00000683562.1:c.*2518C>T	ENSP00000508265.1:n.*2518C>T
ENST00000683693.1:n.6129C>T
ENST00000683725.1:c.4349C>T	ENSP00000507496.1:p.Thr1450Ile
ENST00000684010.1:n.4663C>T
ENST00000684014.1:n.640C>T
ENST00000684157.1:n.5653C>T
ENST00000684253.1:n.4571C>T
ENST00000684288.1:c.*2625C>T	ENSP00000507143.1:n.*2625C>T
ENST00000684313.1:n.4100C>T
ENST00000684332.1:n.4741C>T
ENST00000684371.1:n.4774C>T
ENST00000684404.1:n.5696C>T
ENST00000684442.1:n.4892C>T
ENST00000684555.1:c.*2665C>T	ENSP00000507705.1:n.*2665C>T
ENST00000684571.1:c.4294C>T	ENSP00000506935.1:p.Gln1432Ter
ENST00000684593.1:c.*4158C>T	ENSP00000507005.1:n.*4158C>T
ENST00000684711.1:c.*2849C>T	ENSP00000506841.1:n.*2849C>T
XM_011520331.1:c.4453C>T	XP_011518633.1:p.Gln1485Ter
XM_011520332.1:c.4352C>T	XP_011518634.1:p.Thr1451Ile
XM_011520333.1:c.2953C>T	XP_011518635.1:p.Gln985Ter
XM_017018197.2:c.4522C>T	XP_016873686.1:p.Gln1508Ter
XM_017018199.1:c.4519C>T	XP_016873688.1:p.Gln1507Ter
XM_017018201.2:c.4418C>T	XP_016873690.1:p.Thr1473Ile
XM_017018202.1:c.3019C>T	XP_016873691.1:p.Gln1007Ter
XM_017018204.1:c.2410C>T	XP_016873693.1:p.Gln804Ter
XM_024448668.1:c.2821C>T	XP_024304436.1:p.Gln941Ter
XR_001747945.2:n.4490C>T
XR_001747946.2:n.4421C>T
XR_002957189.1:n.6204C>T
XR_930890.1:n.4415C>T