Canonical Allele Identifier: CA379791194

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418578G>A (hg19) ; chr11:g.17397031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397031G>A , CM000673.2:g.17397031G>A	GRCh38
NC_000011.9:g.17418578G>A , CM000673.1:g.17418578G>A	GRCh37
NC_000011.8:g.17375154G>A	NCBI36
NG_008867.1:g.84872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3605C>T
ENST00000528374.2:c.595C>T
ENST00000529967.6:n.2343C>T
ENST00000532220.2:n.2252C>T
ENST00000642611.2:n.4219C>T
ENST00000644057.2:n.447C>T
ENST00000645004.2:n.1503C>T
ENST00000682051.1:n.4166C>T
ENST00000682110.1:n.4219C>T
ENST00000682140.1:c.3985+162C>T	ENSP00000507829.1:n.3985+162C>T
ENST00000682185.1:n.5309C>T
ENST00000682204.1:c.*2142C>T	ENSP00000507094.1:n.*2142C>T
ENST00000682215.1:n.4586C>T
ENST00000682288.1:c.*2435C>T	ENSP00000507506.1:n.*2435C>T
ENST00000682442.1:n.4439C>T
ENST00000682528.1:n.4296C>T
ENST00000682673.1:n.4163C>T
ENST00000682805.1:n.4586C>T
ENST00000682965.1:c.*426C>T	ENSP00000508229.1:n.*426C>T
ENST00000683093.1:n.4318C>T
ENST00000683136.1:c.3887C>T	ENSP00000507768.1:p.Pro1296Leu
ENST00000683153.1:n.4261C>T
ENST00000683365.1:n.4321C>T
ENST00000683377.1:n.4219C>T
ENST00000683456.1:c.*1141C>T	ENSP00000508318.1:n.*1141C>T
ENST00000683522.1:n.4219C>T
ENST00000683562.1:c.*2173C>T	ENSP00000508265.1:n.*2173C>T
ENST00000683693.1:n.4666C>T
ENST00000683725.1:c.4004C>T	ENSP00000507496.1:p.Pro1335Leu
ENST00000684010.1:n.4214C>T
ENST00000684157.1:n.4219C>T
ENST00000684253.1:n.4122C>T
ENST00000684288.1:c.*2176C>T	ENSP00000507143.1:n.*2176C>T
ENST00000684313.1:n.3651C>T
ENST00000684332.1:n.4292C>T
ENST00000684371.1:n.4325C>T
ENST00000684404.1:n.4262C>T
ENST00000684442.1:n.4443C>T
ENST00000684555.1:c.*2216C>T	ENSP00000507705.1:n.*2216C>T
ENST00000684571.1:c.3845C>T	ENSP00000506935.1:p.Pro1282Leu
ENST00000684593.1:c.*3709C>T	ENSP00000507005.1:n.*3709C>T
ENST00000684711.1:c.*2400C>T	ENSP00000506841.1:n.*2400C>T
ENST00000302539.9:c.4007C>T	ENSP00000303960.4:p.Pro1336Leu
ENST00000389817.8:c.4004C>T MANE Select	ENSP00000374467.4:p.Pro1335Leu
ENST00000642271.1:c.4001C>T	ENSP00000493749.1:p.Pro1334Leu
ENST00000642579.1:c.2073-15C>T
ENST00000642611.1:n.4104C>T
ENST00000642902.1:c.3786C>T
ENST00000643260.1:c.4004C>T	ENSP00000494450.1:p.Pro1335Leu
ENST00000643562.1:c.*2126C>T	ENSP00000496124.1:n.*2126C>T
ENST00000643925.1:c.2644C>T
ENST00000644057.1:n.81C>T
ENST00000644484.1:c.*2405C>T	ENSP00000493558.1:n.*2405C>T
ENST00000644675.1:c.*2176C>T	ENSP00000494567.1:n.*2176C>T
ENST00000644757.1:c.*2435C>T	ENSP00000495085.1:n.*2435C>T
ENST00000644772.1:c.4070C>T	ENSP00000494321.1:p.Pro1357Leu
ENST00000645004.1:n.1659C>T
ENST00000645076.1:c.3203C>T
ENST00000645417.1:c.1192C>T
ENST00000645744.1:c.*2784C>T	ENSP00000494564.1:n.*2784C>T
ENST00000645760.1:c.4425C>T
ENST00000645884.1:c.*1287C>T	ENSP00000495516.1:n.*1287C>T
ENST00000646003.1:c.*2106C>T	ENSP00000495259.1:n.*2106C>T
ENST00000646207.1:c.*2841C>T	ENSP00000495025.1:n.*2841C>T
ENST00000646276.1:c.*2423C>T	ENSP00000496070.1:n.*2423C>T
ENST00000646592.1:c.3310C>T
ENST00000646902.1:c.3986-15C>T	ENSP00000494101.1:n.3986-15C>T
ENST00000646993.1:c.*2546C>T	ENSP00000493720.1:n.*2546C>T
ENST00000647013.1:c.4010C>T	ENSP00000496741.1:n.4010C>T
ENST00000647015.1:c.3755C>T	ENSP00000495389.1:p.Pro1252Leu
ENST00000647086.1:c.*3605-15C>T	ENSP00000493677.1:n.*3605-15C>T
ENST00000647158.1:c.*2291C>T	ENSP00000495744.1:n.*2291C>T
ENST00000302539.8:c.4007C>T	ENSP00000303960.4:p.Pro1336Leu
ENST00000389817.7:c.4004C>T	ENSP00000374467.3:p.Pro1335Leu
ENST00000527905.5:c.*1026C>T	ENSP00000431653.1:n.*1026C>T
ENST00000528374.1:c.486C>T
ENST00000531137.1:n.569C>T
ENST00000531891.1:c.357-15C>T
ENST00000532220.1:n.478C>T
NM_000352.4:c.4004C>T	NP_000343.2:p.Pro1335Leu
NM_001287174.1:c.4007C>T	NP_001274103.1:p.Pro1336Leu
XM_011520331.1:c.4004C>T	XP_011518633.1:p.Pro1335Leu
XM_011520332.1:c.4007C>T	XP_011518634.1:p.Pro1336Leu
XM_011520333.1:c.2504C>T	XP_011518635.1:p.Pro835Leu
XR_930890.1:n.4070C>T
NM_001351295.1:c.4070C>T	NP_001338224.1:p.Pro1357Leu
NM_001351296.1:c.4004C>T	NP_001338225.1:p.Pro1335Leu
NM_001351297.1:c.4001C>T	NP_001338226.1:p.Pro1334Leu
NR_147094.1:n.4299C>T
XM_017018197.2:c.4073C>T	XP_016873686.1:p.Pro1358Leu
XM_017018199.1:c.4070C>T	XP_016873688.1:p.Pro1357Leu
XM_017018201.2:c.4073C>T	XP_016873690.1:p.Pro1358Leu
XM_017018202.1:c.2570C>T	XP_016873691.1:p.Pro857Leu
XM_017018204.1:c.1961C>T	XP_016873693.1:p.Pro654Leu
XM_024448668.1:c.2372C>T	XP_024304436.1:p.Pro791Leu
XR_001747945.2:n.4145C>T
XR_001747946.2:n.4076C>T
XR_002957189.1:n.4741C>T
NM_000352.6:c.4004C>T MANE Select	NP_000343.2:p.Pro1335Leu
NM_001287174.2:c.4007C>T	NP_001274103.1:p.Pro1336Leu
NM_001351295.2:c.4070C>T	NP_001338224.1:p.Pro1357Leu
NM_001351296.2:c.4004C>T	NP_001338225.1:p.Pro1335Leu
NM_001351297.2:c.4001C>T	NP_001338226.1:p.Pro1334Leu
NR_147094.2:n.4299C>T
NM_001287174.3:c.4007C>T	NP_001274103.1:p.Pro1336Leu