Canonical Allele Identifier: CA379801631

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428230G>T (hg19) ; chr11:g.17406683G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406683G>T , CM000673.2:g.17406683G>T	GRCh38
NC_000011.9:g.17428230G>T , CM000673.1:g.17428230G>T	GRCh37
NC_000011.8:g.17384806G>T	NCBI36
NG_008867.1:g.75220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2837C>A
ENST00000529967.6:n.1607C>A
ENST00000532220.2:n.1000C>A
ENST00000642611.2:n.3337C>A
ENST00000645004.2:n.767C>A
ENST00000682051.1:n.3284C>A
ENST00000682110.1:n.3337C>A
ENST00000682140.1:c.3265C>A	ENSP00000507829.1:p.Leu1089Met
ENST00000682185.1:n.4573C>A
ENST00000682204.1:c.*1406C>A	ENSP00000507094.1:n.*1406C>A
ENST00000682215.1:n.3334C>A
ENST00000682288.1:c.*1699C>A	ENSP00000507506.1:n.*1699C>A
ENST00000682442.1:n.3557C>A
ENST00000682528.1:n.3414C>A
ENST00000682673.1:n.3281C>A
ENST00000682805.1:n.3334C>A
ENST00000682965.1:c.3265C>A	ENSP00000508229.1:p.Leu1089Met
ENST00000683093.1:n.3436C>A
ENST00000683136.1:c.3265C>A	ENSP00000507768.1:p.Leu1089Met
ENST00000683153.1:n.3493C>A
ENST00000683365.1:n.3439C>A
ENST00000683377.1:n.3337C>A
ENST00000683456.1:c.*405C>A	ENSP00000508318.1:n.*405C>A
ENST00000683522.1:n.3337C>A
ENST00000683562.1:c.*1437C>A	ENSP00000508265.1:n.*1437C>A
ENST00000683693.1:n.3414C>A
ENST00000683725.1:c.3268C>A	ENSP00000507496.1:p.Leu1090Met
ENST00000684010.1:n.3332C>A
ENST00000684157.1:n.3337C>A
ENST00000684253.1:n.3240C>A
ENST00000684288.1:c.*1440C>A	ENSP00000507143.1:n.*1440C>A
ENST00000684313.1:n.2769C>A
ENST00000684332.1:n.3410C>A
ENST00000684371.1:n.3443C>A
ENST00000684404.1:n.3380C>A
ENST00000684442.1:n.3337C>A
ENST00000684555.1:c.*1480C>A	ENSP00000507705.1:n.*1480C>A
ENST00000684571.1:c.3109C>A	ENSP00000506935.1:p.Leu1037Met
ENST00000684593.1:c.*2973C>A	ENSP00000507005.1:n.*2973C>A
ENST00000684711.1:c.*1664C>A	ENSP00000506841.1:n.*1664C>A
ENST00000302539.9:c.3271C>A	ENSP00000303960.4:p.Leu1091Met
ENST00000389817.8:c.3268C>A MANE Select	ENSP00000374467.4:p.Leu1090Met
ENST00000642271.1:c.3265C>A	ENSP00000493749.1:p.Leu1089Met
ENST00000642579.1:c.1352C>A
ENST00000642611.1:n.3222C>A
ENST00000642902.1:c.3050C>A
ENST00000643260.1:c.3268C>A	ENSP00000494450.1:p.Leu1090Met
ENST00000643562.1:c.*1244C>A	ENSP00000496124.1:n.*1244C>A
ENST00000643925.1:c.1392C>A
ENST00000644447.1:c.1624C>A	ENSP00000496282.1:p.Leu542Met
ENST00000644484.1:c.*1523C>A	ENSP00000493558.1:n.*1523C>A
ENST00000644542.1:c.*3072C>A	ENSP00000495532.1:n.*3072C>A
ENST00000644675.1:c.*1440C>A	ENSP00000494567.1:n.*1440C>A
ENST00000644757.1:c.*1553C>A	ENSP00000495085.1:n.*1553C>A
ENST00000644772.1:c.3334C>A	ENSP00000494321.1:p.Leu1112Met
ENST00000645004.1:n.407C>A
ENST00000645076.1:c.2467C>A
ENST00000645417.1:c.434C>A
ENST00000645744.1:c.*1532C>A	ENSP00000494564.1:n.*1532C>A
ENST00000645760.1:c.3543C>A
ENST00000645884.1:c.*405C>A	ENSP00000495516.1:n.*405C>A
ENST00000646003.1:c.*1224C>A	ENSP00000495259.1:n.*1224C>A
ENST00000646207.1:c.*1735C>A	ENSP00000495025.1:n.*1735C>A
ENST00000646276.1:c.*1541C>A	ENSP00000496070.1:n.*1541C>A
ENST00000646592.1:c.2574C>A
ENST00000646902.1:c.3265C>A	ENSP00000494101.1:p.Leu1089Met
ENST00000646993.1:c.*1664C>A	ENSP00000493720.1:n.*1664C>A
ENST00000647013.1:c.3274C>A	ENSP00000496741.1:n.3274C>A
ENST00000647015.1:c.3019C>A	ENSP00000495389.1:p.Leu1007Met
ENST00000647086.1:c.*2998C>A	ENSP00000493677.1:n.*2998C>A
ENST00000647158.1:c.*1409C>A	ENSP00000495744.1:n.*1409C>A
ENST00000302539.8:c.3271C>A	ENSP00000303960.4:p.Leu1091Met
ENST00000389817.7:c.3268C>A	ENSP00000374467.3:p.Leu1090Met
ENST00000524561.1:n.400C>A
ENST00000526921.5:n.952C>A
ENST00000527905.5:c.*144C>A	ENSP00000431653.1:n.*144C>A
NM_000352.4:c.3268C>A	NP_000343.2:p.Leu1090Met
NM_001287174.1:c.3271C>A	NP_001274103.1:p.Leu1091Met
XM_011520331.1:c.3268C>A	XP_011518633.1:p.Leu1090Met
XM_011520332.1:c.3271C>A	XP_011518634.1:p.Leu1091Met
XM_011520333.1:c.1768C>A	XP_011518635.1:p.Leu590Met
XR_930890.1:n.3334C>A
XR_930891.1:n.3334C>A
XR_930892.1:n.3234C>A
XR_930893.1:n.3231C>A
NM_001351295.1:c.3334C>A	NP_001338224.1:p.Leu1112Met
NM_001351296.1:c.3268C>A	NP_001338225.1:p.Leu1090Met
NM_001351297.1:c.3265C>A	NP_001338226.1:p.Leu1089Met
NR_147094.1:n.3417C>A
XM_017018197.2:c.3337C>A	XP_016873686.1:p.Leu1113Met
XM_017018199.1:c.3334C>A	XP_016873688.1:p.Leu1112Met
XM_017018201.2:c.3337C>A	XP_016873690.1:p.Leu1113Met
XM_017018202.1:c.1834C>A	XP_016873691.1:p.Leu612Met
XM_017018204.1:c.1225C>A	XP_016873693.1:p.Leu409Met
XM_024448668.1:c.1636C>A	XP_024304436.1:p.Leu546Met
XR_001747945.2:n.3409C>A
XR_001747946.2:n.3340C>A
XR_002957189.1:n.3489C>A
NM_000352.6:c.3268C>A MANE Select	NP_000343.2:p.Leu1090Met
NM_001287174.2:c.3271C>A	NP_001274103.1:p.Leu1091Met
NM_001351295.2:c.3334C>A	NP_001338224.1:p.Leu1112Met
NM_001351296.2:c.3268C>A	NP_001338225.1:p.Leu1090Met
NM_001351297.2:c.3265C>A	NP_001338226.1:p.Leu1089Met
NR_147094.2:n.3417C>A
NM_001287174.3:c.3271C>A	NP_001274103.1:p.Leu1091Met