Canonical Allele Identifier: CA379804896

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408412G>A , CM000673.2:g.17408412G>A	GRCh38
NC_000011.9:g.17429959G>A , CM000673.1:g.17429959G>A	GRCh37
NC_000011.8:g.17386535G>A	NCBI36
NG_008867.1:g.73491C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.2800C>T MANE Select	NP_000343.2:p.Gln934Ter
ENST00000389817.8:c.2800C>T MANE Select	ENSP00000374467.4:p.Gln934Ter
NM_000352.4:c.2800C>T	NP_000343.2:p.Gln934Ter
NM_001287174.1:c.2803C>T	NP_001274103.1:p.Gln935Ter
NM_001287174.2:c.2803C>T	NP_001274103.1:p.Gln935Ter
NM_001287174.3:c.2803C>T	NP_001274103.1:p.Gln935Ter
NM_001351295.1:c.2866C>T	NP_001338224.1:p.Gln956Ter
NM_001351295.2:c.2866C>T	NP_001338224.1:p.Gln956Ter
NM_001351296.1:c.2800C>T	NP_001338225.1:p.Gln934Ter
NM_001351296.2:c.2800C>T	NP_001338225.1:p.Gln934Ter
NM_001351297.1:c.2797C>T	NP_001338226.1:p.Gln933Ter
NM_001351297.2:c.2797C>T	NP_001338226.1:p.Gln933Ter
NR_147094.1:n.2869C>T
NR_147094.2:n.2869C>T
ENST00000302539.8:c.2803C>T	ENSP00000303960.4:p.Gln935Ter
ENST00000302539.9:c.2803C>T	ENSP00000303960.4:p.Gln935Ter
ENST00000389817.7:c.2800C>T	ENSP00000374467.3:p.Gln934Ter
ENST00000524561.2:n.2469C>T
ENST00000526921.5:n.484C>T
ENST00000527905.5:c.2770C>T	ENSP00000431653.1:p.Gln924Ter
ENST00000529967.5:n.469C>T
ENST00000529967.6:n.1059C>T
ENST00000532220.2:n.532C>T
ENST00000642271.1:c.2797C>T	ENSP00000493749.1:p.Gln933Ter
ENST00000642579.1:c.884C>T
ENST00000642611.1:n.2754C>T
ENST00000642611.2:n.2869C>T
ENST00000642902.1:c.2635C>T
ENST00000643260.1:c.2800C>T	ENSP00000494450.1:p.Gln934Ter
ENST00000643562.1:c.*776C>T	ENSP00000496124.1:n.*776C>T
ENST00000643925.1:c.844C>T
ENST00000644447.1:c.1156C>T	ENSP00000496282.1:p.Gln386Ter
ENST00000644484.1:c.*1009C>T	ENSP00000493558.1:n.*1009C>T
ENST00000644542.1:c.*2505C>T	ENSP00000495532.1:n.*2505C>T
ENST00000644675.1:c.*972C>T	ENSP00000494567.1:n.*972C>T
ENST00000644757.1:c.*1105C>T	ENSP00000495085.1:n.*1105C>T
ENST00000644772.1:c.2866C>T	ENSP00000494321.1:p.Gln956Ter
ENST00000645076.1:c.2052C>T
ENST00000645744.1:c.*1164C>T	ENSP00000494564.1:n.*1164C>T
ENST00000645760.1:c.3075C>T
ENST00000645884.1:c.2800C>T	ENSP00000495516.1:p.Gln934Ter
ENST00000646003.1:c.*856C>T	ENSP00000495259.1:n.*856C>T
ENST00000646207.1:c.*1164C>T	ENSP00000495025.1:n.*1164C>T
ENST00000646276.1:c.*1073C>T	ENSP00000496070.1:n.*1073C>T
ENST00000646592.1:c.2026C>T
ENST00000646902.1:c.2797C>T	ENSP00000494101.1:p.Gln933Ter
ENST00000646993.1:c.*1196C>T	ENSP00000493720.1:n.*1196C>T
ENST00000647013.1:c.2806C>T	ENSP00000496741.1:n.2806C>T
ENST00000647015.1:c.2551C>T	ENSP00000495389.1:p.Gln851Ter
ENST00000647086.1:c.*2530C>T	ENSP00000493677.1:n.*2530C>T
ENST00000647158.1:c.*941C>T	ENSP00000495744.1:n.*941C>T
ENST00000682051.1:n.2816C>T
ENST00000682110.1:n.2869C>T
ENST00000682140.1:c.2797C>T	ENSP00000507829.1:p.Gln933Ter
ENST00000682185.1:n.4105C>T
ENST00000682204.1:c.*938C>T	ENSP00000507094.1:n.*938C>T
ENST00000682215.1:n.2866C>T
ENST00000682288.1:c.*1231C>T	ENSP00000507506.1:n.*1231C>T
ENST00000682442.1:n.2990C>T
ENST00000682528.1:n.2866C>T
ENST00000682673.1:n.2813C>T
ENST00000682805.1:n.2866C>T
ENST00000682965.1:c.2797C>T	ENSP00000508229.1:p.Gln933Ter
ENST00000683093.1:n.2968C>T
ENST00000683136.1:c.2797C>T	ENSP00000507768.1:p.Gln933Ter
ENST00000683153.1:n.3025C>T
ENST00000683365.1:n.2971C>T
ENST00000683377.1:n.2869C>T
ENST00000683456.1:c.2800C>T	ENSP00000508318.1:p.Gln934Ter
ENST00000683522.1:n.2869C>T
ENST00000683562.1:c.*969C>T	ENSP00000508265.1:n.*969C>T
ENST00000683693.1:n.2866C>T
ENST00000683725.1:c.2800C>T	ENSP00000507496.1:p.Gln934Ter
ENST00000684010.1:n.2784C>T
ENST00000684157.1:n.2869C>T
ENST00000684253.1:n.2772C>T
ENST00000684288.1:c.*972C>T	ENSP00000507143.1:n.*972C>T
ENST00000684313.1:n.2301C>T
ENST00000684332.1:n.2942C>T
ENST00000684371.1:n.2975C>T
ENST00000684404.1:n.2866C>T
ENST00000684442.1:n.2869C>T
ENST00000684555.1:c.*1012C>T	ENSP00000507705.1:n.*1012C>T
ENST00000684571.1:c.2641C>T	ENSP00000506935.1:p.Gln881Ter
ENST00000684593.1:c.*2505C>T	ENSP00000507005.1:n.*2505C>T
ENST00000684711.1:c.*1196C>T	ENSP00000506841.1:n.*1196C>T
XM_011520331.1:c.2800C>T	XP_011518633.1:p.Gln934Ter
XM_011520332.1:c.2803C>T	XP_011518634.1:p.Gln935Ter
XM_011520333.1:c.1300C>T	XP_011518635.1:p.Gln434Ter
XM_011520334.1:c.2803C>T	XP_011518636.1:p.Gln935Ter
XM_017018197.2:c.2869C>T	XP_016873686.1:p.Gln957Ter
XM_017018199.1:c.2866C>T	XP_016873688.1:p.Gln956Ter
XM_017018201.2:c.2869C>T	XP_016873690.1:p.Gln957Ter
XM_017018202.1:c.1366C>T	XP_016873691.1:p.Gln456Ter
XM_017018204.1:c.757C>T	XP_016873693.1:p.Gln253Ter
XM_024448668.1:c.1168C>T	XP_024304436.1:p.Gln390Ter
XR_001747945.2:n.2941C>T
XR_001747946.2:n.2872C>T
XR_002957189.1:n.2941C>T
XR_930890.1:n.2866C>T
XR_930891.1:n.2866C>T
XR_930892.1:n.2866C>T
XR_930893.1:n.2863C>T