Canonical Allele Identifier: CA2739353708

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397053G>A , CM000673.2:g.17397053G>A	GRCh38
NC_000011.9:g.17418600G>A , CM000673.1:g.17418600G>A	GRCh37
NC_000011.8:g.17375176G>A	NCBI36
NG_008867.1:g.84850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3583C>T
ENST00000528374.2:c.573C>T
ENST00000529967.6:n.2328-7C>T
ENST00000532220.2:n.2230C>T
ENST00000642611.2:n.4197C>T
ENST00000644057.2:n.432-7C>T
ENST00000645004.2:n.1488-7C>T
ENST00000682051.1:n.4144C>T
ENST00000682110.1:n.4197C>T
ENST00000682140.1:c.3985+140C>T	ENSP00000507829.1:n.3985+140C>T
ENST00000682185.1:n.5294-7C>T
ENST00000682204.1:c.*2127-7C>T	ENSP00000507094.1:n.*2127-7C>T
ENST00000682215.1:n.4564C>T
ENST00000682288.1:c.*2420-7C>T	ENSP00000507506.1:n.*2420-7C>T
ENST00000682442.1:n.4417C>T
ENST00000682528.1:n.4274C>T
ENST00000682673.1:n.4141C>T
ENST00000682805.1:n.4564C>T
ENST00000682965.1:c.*411-7C>T	ENSP00000508229.1:n.*411-7C>T
ENST00000683093.1:n.4296C>T
ENST00000683136.1:c.3872-7C>T	ENSP00000507768.1:n.3872-7C>T
ENST00000683153.1:n.4239C>T
ENST00000683365.1:n.4299C>T
ENST00000683377.1:n.4197C>T
ENST00000683456.1:c.*1126-7C>T	ENSP00000508318.1:n.*1126-7C>T
ENST00000683522.1:n.4197C>T
ENST00000683562.1:c.*2158-7C>T	ENSP00000508265.1:n.*2158-7C>T
ENST00000683693.1:n.4644C>T
ENST00000683725.1:c.3989-7C>T	ENSP00000507496.1:n.3989-7C>T
ENST00000684010.1:n.4192C>T
ENST00000684157.1:n.4197C>T
ENST00000684253.1:n.4100C>T
ENST00000684288.1:c.*2161-7C>T	ENSP00000507143.1:n.*2161-7C>T
ENST00000684313.1:n.3629C>T
ENST00000684332.1:n.4270C>T
ENST00000684371.1:n.4303C>T
ENST00000684404.1:n.4240C>T
ENST00000684442.1:n.4428-7C>T
ENST00000684555.1:c.*2201-7C>T	ENSP00000507705.1:n.*2201-7C>T
ENST00000684571.1:c.3830-7C>T	ENSP00000506935.1:n.3830-7C>T
ENST00000684593.1:c.*3694-7C>T	ENSP00000507005.1:n.*3694-7C>T
ENST00000684711.1:c.*2385-7C>T	ENSP00000506841.1:n.*2385-7C>T
ENST00000302539.9:c.3992-7C>T	ENSP00000303960.4:n.3992-7C>T
ENST00000389817.8:c.3989-7C>T MANE Select	ENSP00000374467.4:n.3989-7C>T
ENST00000642271.1:c.3986-7C>T	ENSP00000493749.1:n.3986-7C>T
ENST00000642579.1:c.2073-37C>T
ENST00000642611.1:n.4082C>T
ENST00000642902.1:c.3771-7C>T
ENST00000643260.1:c.3989-7C>T	ENSP00000494450.1:n.3989-7C>T
ENST00000643562.1:c.*2104C>T	ENSP00000496124.1:n.*2104C>T
ENST00000643925.1:c.2622C>T
ENST00000644057.1:n.59C>T
ENST00000644484.1:c.*2383C>T	ENSP00000493558.1:n.*2383C>T
ENST00000644675.1:c.*2161-7C>T	ENSP00000494567.1:n.*2161-7C>T
ENST00000644757.1:c.*2413C>T	ENSP00000495085.1:n.*2413C>T
ENST00000644772.1:c.4055-7C>T	ENSP00000494321.1:n.4055-7C>T
ENST00000645004.1:n.1637C>T
ENST00000645076.1:c.3188-7C>T
ENST00000645417.1:c.1177-7C>T
ENST00000645744.1:c.*2762C>T	ENSP00000494564.1:n.*2762C>T
ENST00000645760.1:c.4403C>T
ENST00000645884.1:c.*1265C>T	ENSP00000495516.1:n.*1265C>T
ENST00000646003.1:c.*2084C>T	ENSP00000495259.1:n.*2084C>T
ENST00000646207.1:c.*2826-7C>T	ENSP00000495025.1:n.*2826-7C>T
ENST00000646276.1:c.*2401C>T	ENSP00000496070.1:n.*2401C>T
ENST00000646592.1:c.3295-7C>T
ENST00000646902.1:c.3986-37C>T	ENSP00000494101.1:n.3986-37C>T
ENST00000646993.1:c.*2524C>T	ENSP00000493720.1:n.*2524C>T
ENST00000647013.1:c.3995-7C>T	ENSP00000496741.1:n.3995-7C>T
ENST00000647015.1:c.3740-7C>T	ENSP00000495389.1:n.3740-7C>T
ENST00000647086.1:c.*3605-37C>T	ENSP00000493677.1:n.*3605-37C>T
ENST00000647158.1:c.*2269C>T	ENSP00000495744.1:n.*2269C>T
ENST00000302539.8:c.3992-7C>T	ENSP00000303960.4:n.3992-7C>T
ENST00000389817.7:c.3989-7C>T	ENSP00000374467.3:n.3989-7C>T
ENST00000527905.5:c.*1004C>T	ENSP00000431653.1:n.*1004C>T
ENST00000528374.1:c.464C>T
ENST00000531137.1:n.547C>T
ENST00000531891.1:c.357-37C>T
ENST00000532220.1:n.456C>T
NM_000352.4:c.3989-7C>T	NP_000343.2:n.3989-7C>T
NM_001287174.1:c.3992-7C>T	NP_001274103.1:n.3992-7C>T
XM_011520331.1:c.3989-7C>T	XP_011518633.1:n.3989-7C>T
XM_011520332.1:c.3992-7C>T	XP_011518634.1:n.3992-7C>T
XM_011520333.1:c.2489-7C>T	XP_011518635.1:n.2489-7C>T
XR_930890.1:n.4055-7C>T
NM_001351295.1:c.4055-7C>T	NP_001338224.1:n.4055-7C>T
NM_001351296.1:c.3989-7C>T	NP_001338225.1:n.3989-7C>T
NM_001351297.1:c.3986-7C>T	NP_001338226.1:n.3986-7C>T
NR_147094.1:n.4277C>T
XM_017018197.2:c.4058-7C>T	XP_016873686.1:n.4058-7C>T
XM_017018199.1:c.4055-7C>T	XP_016873688.1:n.4055-7C>T
XM_017018201.2:c.4058-7C>T	XP_016873690.1:n.4058-7C>T
XM_017018202.1:c.2555-7C>T	XP_016873691.1:n.2555-7C>T
XM_017018204.1:c.1946-7C>T	XP_016873693.1:n.1946-7C>T
XM_024448668.1:c.2357-7C>T	XP_024304436.1:n.2357-7C>T
XR_001747945.2:n.4130-7C>T
XR_001747946.2:n.4061-7C>T
XR_002957189.1:n.4719C>T
NM_000352.6:c.3989-7C>T MANE Select	NP_000343.2:n.3989-7C>T
NM_001287174.2:c.3992-7C>T	NP_001274103.1:n.3992-7C>T
NM_001351295.2:c.4055-7C>T	NP_001338224.1:n.4055-7C>T
NM_001351296.2:c.3989-7C>T	NP_001338225.1:n.3989-7C>T
NM_001351297.2:c.3986-7C>T	NP_001338226.1:n.3986-7C>T
NR_147094.2:n.4277C>T
NM_001287174.3:c.3992-7C>T	NP_001274103.1:n.3992-7C>T