Canonical Allele Identifier: CA379790498

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418507G>T (hg19) ; chr11:g.17396960G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396960G>T , CM000673.2:g.17396960G>T	GRCh38
NC_000011.9:g.17418507G>T , CM000673.1:g.17418507G>T	GRCh37
NC_000011.8:g.17375083G>T	NCBI36
NG_008867.1:g.84943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3676C>A
ENST00000528374.2:c.666C>A
ENST00000529967.6:n.2414C>A
ENST00000532220.2:n.2323C>A
ENST00000642611.2:n.4290C>A
ENST00000644057.2:n.518C>A
ENST00000645004.2:n.1574C>A
ENST00000682051.1:n.4237C>A
ENST00000682110.1:n.4290C>A
ENST00000682140.1:c.3985+233C>A	ENSP00000507829.1:n.3985+233C>A
ENST00000682185.1:n.5380C>A
ENST00000682204.1:c.*2213C>A	ENSP00000507094.1:n.*2213C>A
ENST00000682215.1:n.4657C>A
ENST00000682288.1:c.*2506C>A	ENSP00000507506.1:n.*2506C>A
ENST00000682442.1:n.4510C>A
ENST00000682528.1:n.4367C>A
ENST00000682673.1:n.4234C>A
ENST00000682805.1:n.4657C>A
ENST00000682965.1:c.*497C>A	ENSP00000508229.1:n.*497C>A
ENST00000683093.1:n.4389C>A
ENST00000683136.1:c.3958C>A	ENSP00000507768.1:p.Pro1320Thr
ENST00000683153.1:n.4332C>A
ENST00000683365.1:n.4392C>A
ENST00000683377.1:n.4290C>A
ENST00000683456.1:c.*1212C>A	ENSP00000508318.1:n.*1212C>A
ENST00000683522.1:n.4290C>A
ENST00000683562.1:c.*2244C>A	ENSP00000508265.1:n.*2244C>A
ENST00000683693.1:n.4737C>A
ENST00000683725.1:c.4075C>A	ENSP00000507496.1:p.Pro1359Thr
ENST00000684010.1:n.4285C>A
ENST00000684157.1:n.4290C>A
ENST00000684253.1:n.4193C>A
ENST00000684288.1:c.*2247C>A	ENSP00000507143.1:n.*2247C>A
ENST00000684313.1:n.3722C>A
ENST00000684332.1:n.4363C>A
ENST00000684371.1:n.4396C>A
ENST00000684404.1:n.4333C>A
ENST00000684442.1:n.4514C>A
ENST00000684555.1:c.*2287C>A	ENSP00000507705.1:n.*2287C>A
ENST00000684571.1:c.3916C>A	ENSP00000506935.1:p.Pro1306Thr
ENST00000684593.1:c.*3780C>A	ENSP00000507005.1:n.*3780C>A
ENST00000684711.1:c.*2471C>A	ENSP00000506841.1:n.*2471C>A
ENST00000302539.9:c.4078C>A	ENSP00000303960.4:p.Pro1360Thr
ENST00000389817.8:c.4075C>A MANE Select	ENSP00000374467.4:p.Pro1359Thr
ENST00000642271.1:c.4072C>A	ENSP00000493749.1:p.Pro1358Thr
ENST00000642579.1:c.2129C>A
ENST00000642611.1:n.4175C>A
ENST00000642902.1:c.3857C>A
ENST00000643260.1:c.4075C>A	ENSP00000494450.1:p.Pro1359Thr
ENST00000643562.1:c.*2197C>A	ENSP00000496124.1:n.*2197C>A
ENST00000643925.1:c.2715C>A
ENST00000644057.1:n.152C>A
ENST00000644484.1:c.*2476C>A	ENSP00000493558.1:n.*2476C>A
ENST00000644675.1:c.*2247C>A	ENSP00000494567.1:n.*2247C>A
ENST00000644757.1:c.*2506C>A	ENSP00000495085.1:n.*2506C>A
ENST00000644772.1:c.4141C>A	ENSP00000494321.1:p.Pro1381Thr
ENST00000645004.1:n.1730C>A
ENST00000645076.1:c.3274C>A
ENST00000645417.1:c.1263C>A
ENST00000645744.1:c.*2855C>A	ENSP00000494564.1:n.*2855C>A
ENST00000645760.1:c.4496C>A
ENST00000645884.1:c.*1358C>A	ENSP00000495516.1:n.*1358C>A
ENST00000646003.1:c.*2177C>A	ENSP00000495259.1:n.*2177C>A
ENST00000646207.1:c.*2912C>A	ENSP00000495025.1:n.*2912C>A
ENST00000646276.1:c.*2494C>A	ENSP00000496070.1:n.*2494C>A
ENST00000646592.1:c.3381C>A
ENST00000646902.1:c.4042C>A	ENSP00000494101.1:p.Pro1348Thr
ENST00000646993.1:c.*2617C>A	ENSP00000493720.1:n.*2617C>A
ENST00000647013.1:c.4081C>A	ENSP00000496741.1:n.4081C>A
ENST00000647015.1:c.3826C>A	ENSP00000495389.1:p.Pro1276Thr
ENST00000647086.1:c.*3661C>A	ENSP00000493677.1:n.*3661C>A
ENST00000647158.1:c.*2362C>A	ENSP00000495744.1:n.*2362C>A
ENST00000302539.8:c.4078C>A	ENSP00000303960.4:p.Pro1360Thr
ENST00000389817.7:c.4075C>A	ENSP00000374467.3:p.Pro1359Thr
ENST00000527905.5:c.*1097C>A	ENSP00000431653.1:n.*1097C>A
ENST00000528374.1:c.557C>A
ENST00000531137.1:n.640C>A
ENST00000531891.1:c.413C>A
ENST00000532220.1:n.549C>A
NM_000352.4:c.4075C>A	NP_000343.2:p.Pro1359Thr
NM_001287174.1:c.4078C>A	NP_001274103.1:p.Pro1360Thr
XM_011520331.1:c.4075C>A	XP_011518633.1:p.Pro1359Thr
XM_011520332.1:c.4078C>A	XP_011518634.1:p.Pro1360Thr
XM_011520333.1:c.2575C>A	XP_011518635.1:p.Pro859Thr
XR_930890.1:n.4141C>A
NM_001351295.1:c.4141C>A	NP_001338224.1:p.Pro1381Thr
NM_001351296.1:c.4075C>A	NP_001338225.1:p.Pro1359Thr
NM_001351297.1:c.4072C>A	NP_001338226.1:p.Pro1358Thr
NR_147094.1:n.4370C>A
XM_017018197.2:c.4144C>A	XP_016873686.1:p.Pro1382Thr
XM_017018199.1:c.4141C>A	XP_016873688.1:p.Pro1381Thr
XM_017018201.2:c.4144C>A	XP_016873690.1:p.Pro1382Thr
XM_017018202.1:c.2641C>A	XP_016873691.1:p.Pro881Thr
XM_017018204.1:c.2032C>A	XP_016873693.1:p.Pro678Thr
XM_024448668.1:c.2443C>A	XP_024304436.1:p.Pro815Thr
XR_001747945.2:n.4216C>A
XR_001747946.2:n.4147C>A
XR_002957189.1:n.4812C>A
NM_000352.6:c.4075C>A MANE Select	NP_000343.2:p.Pro1359Thr
NM_001287174.2:c.4078C>A	NP_001274103.1:p.Pro1360Thr
NM_001351295.2:c.4141C>A	NP_001338224.1:p.Pro1381Thr
NM_001351296.2:c.4075C>A	NP_001338225.1:p.Pro1359Thr
NM_001351297.2:c.4072C>A	NP_001338226.1:p.Pro1358Thr
NR_147094.2:n.4370C>A
NM_001287174.3:c.4078C>A	NP_001274103.1:p.Pro1360Thr