Canonical Allele Identifier: CA2612643221

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17397101-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397101A>T , CM000673.2:g.17397101A>T	GRCh38
NC_000011.9:g.17418648A>T , CM000673.1:g.17418648A>T	GRCh37
NC_000011.8:g.17375224A>T	NCBI36
NG_008867.1:g.84802T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3535T>A
ENST00000528374.2:c.568-43T>A
ENST00000529967.6:n.2328-55T>A
ENST00000532220.2:n.2182T>A
ENST00000642611.2:n.4149T>A
ENST00000644057.2:n.432-55T>A
ENST00000645004.2:n.1488-55T>A
ENST00000682051.1:n.4096T>A
ENST00000682110.1:n.4149T>A
ENST00000682140.1:c.3985+92T>A	ENSP00000507829.1:n.3985+92T>A
ENST00000682185.1:n.5294-55T>A
ENST00000682204.1:c.*2127-55T>A	ENSP00000507094.1:n.*2127-55T>A
ENST00000682215.1:n.4516T>A
ENST00000682288.1:c.*2420-55T>A	ENSP00000507506.1:n.*2420-55T>A
ENST00000682442.1:n.4369T>A
ENST00000682528.1:n.4226T>A
ENST00000682673.1:n.4093T>A
ENST00000682805.1:n.4516T>A
ENST00000682965.1:c.*411-55T>A	ENSP00000508229.1:n.*411-55T>A
ENST00000683093.1:n.4248T>A
ENST00000683136.1:c.3872-55T>A	ENSP00000507768.1:n.3872-55T>A
ENST00000683153.1:n.4191T>A
ENST00000683365.1:n.4251T>A
ENST00000683377.1:n.4149T>A
ENST00000683456.1:c.*1126-55T>A	ENSP00000508318.1:n.*1126-55T>A
ENST00000683522.1:n.4149T>A
ENST00000683562.1:c.*2158-55T>A	ENSP00000508265.1:n.*2158-55T>A
ENST00000683693.1:n.4596T>A
ENST00000683725.1:c.3989-55T>A	ENSP00000507496.1:n.3989-55T>A
ENST00000684010.1:n.4144T>A
ENST00000684157.1:n.4149T>A
ENST00000684253.1:n.4052T>A
ENST00000684288.1:c.*2161-55T>A	ENSP00000507143.1:n.*2161-55T>A
ENST00000684313.1:n.3581T>A
ENST00000684332.1:n.4222T>A
ENST00000684371.1:n.4255T>A
ENST00000684404.1:n.4192T>A
ENST00000684442.1:n.4428-55T>A
ENST00000684555.1:c.*2201-55T>A	ENSP00000507705.1:n.*2201-55T>A
ENST00000684571.1:c.3830-55T>A	ENSP00000506935.1:n.3830-55T>A
ENST00000684593.1:c.*3694-55T>A	ENSP00000507005.1:n.*3694-55T>A
ENST00000684711.1:c.*2385-55T>A	ENSP00000506841.1:n.*2385-55T>A
ENST00000302539.9:c.3992-55T>A	ENSP00000303960.4:n.3992-55T>A
ENST00000389817.8:c.3989-55T>A MANE Select	ENSP00000374467.4:n.3989-55T>A
ENST00000642271.1:c.3986-55T>A	ENSP00000493749.1:n.3986-55T>A
ENST00000642579.1:c.2073-85T>A
ENST00000642611.1:n.4034T>A
ENST00000642902.1:c.3771-55T>A
ENST00000643260.1:c.3989-55T>A	ENSP00000494450.1:n.3989-55T>A
ENST00000643562.1:c.*2056T>A	ENSP00000496124.1:n.*2056T>A
ENST00000643925.1:c.2574T>A
ENST00000644057.1:n.11T>A
ENST00000644484.1:c.*2335T>A	ENSP00000493558.1:n.*2335T>A
ENST00000644675.1:c.*2161-55T>A	ENSP00000494567.1:n.*2161-55T>A
ENST00000644757.1:c.*2365T>A	ENSP00000495085.1:n.*2365T>A
ENST00000644772.1:c.4055-55T>A	ENSP00000494321.1:n.4055-55T>A
ENST00000645004.1:n.1589T>A
ENST00000645076.1:c.3188-55T>A
ENST00000645417.1:c.1177-55T>A
ENST00000645744.1:c.*2714T>A	ENSP00000494564.1:n.*2714T>A
ENST00000645760.1:c.4355T>A
ENST00000645884.1:c.*1217T>A	ENSP00000495516.1:n.*1217T>A
ENST00000646003.1:c.*2036T>A	ENSP00000495259.1:n.*2036T>A
ENST00000646207.1:c.*2826-55T>A	ENSP00000495025.1:n.*2826-55T>A
ENST00000646276.1:c.*2353T>A	ENSP00000496070.1:n.*2353T>A
ENST00000646592.1:c.3295-55T>A
ENST00000646902.1:c.3986-85T>A	ENSP00000494101.1:n.3986-85T>A
ENST00000646993.1:c.*2476T>A	ENSP00000493720.1:n.*2476T>A
ENST00000647013.1:c.3995-55T>A	ENSP00000496741.1:n.3995-55T>A
ENST00000647015.1:c.3740-55T>A	ENSP00000495389.1:n.3740-55T>A
ENST00000647086.1:c.*3605-85T>A	ENSP00000493677.1:n.*3605-85T>A
ENST00000647158.1:c.*2221T>A	ENSP00000495744.1:n.*2221T>A
ENST00000302539.8:c.3992-55T>A	ENSP00000303960.4:n.3992-55T>A
ENST00000389817.7:c.3989-55T>A	ENSP00000374467.3:n.3989-55T>A
ENST00000527905.5:c.*956T>A	ENSP00000431653.1:n.*956T>A
ENST00000528374.1:c.459-43T>A
ENST00000531137.1:n.499T>A
ENST00000531891.1:c.357-85T>A
ENST00000532220.1:n.408T>A
NM_000352.4:c.3989-55T>A	NP_000343.2:n.3989-55T>A
NM_001287174.1:c.3992-55T>A	NP_001274103.1:n.3992-55T>A
XM_011520331.1:c.3989-55T>A	XP_011518633.1:n.3989-55T>A
XM_011520332.1:c.3992-55T>A	XP_011518634.1:n.3992-55T>A
XM_011520333.1:c.2489-55T>A	XP_011518635.1:n.2489-55T>A
XR_930890.1:n.4055-55T>A
NM_001351295.1:c.4055-55T>A	NP_001338224.1:n.4055-55T>A
NM_001351296.1:c.3989-55T>A	NP_001338225.1:n.3989-55T>A
NM_001351297.1:c.3986-55T>A	NP_001338226.1:n.3986-55T>A
NR_147094.1:n.4229T>A
XM_017018197.2:c.4058-55T>A	XP_016873686.1:n.4058-55T>A
XM_017018199.1:c.4055-55T>A	XP_016873688.1:n.4055-55T>A
XM_017018201.2:c.4058-55T>A	XP_016873690.1:n.4058-55T>A
XM_017018202.1:c.2555-55T>A	XP_016873691.1:n.2555-55T>A
XM_017018204.1:c.1946-55T>A	XP_016873693.1:n.1946-55T>A
XM_024448668.1:c.2357-55T>A	XP_024304436.1:n.2357-55T>A
XR_001747945.2:n.4130-55T>A
XR_001747946.2:n.4061-55T>A
XR_002957189.1:n.4671T>A
NM_000352.6:c.3989-55T>A MANE Select	NP_000343.2:n.3989-55T>A
NM_001287174.2:c.3992-55T>A	NP_001274103.1:n.3992-55T>A
NM_001351295.2:c.4055-55T>A	NP_001338224.1:n.4055-55T>A
NM_001351296.2:c.3989-55T>A	NP_001338225.1:n.3989-55T>A
NM_001351297.2:c.3986-55T>A	NP_001338226.1:n.3986-55T>A
NR_147094.2:n.4229T>A
NM_001287174.3:c.3992-55T>A	NP_001274103.1:n.3992-55T>A