Canonical Allele Identifier: CA2574768450

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395831-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395831G>A , CM000673.2:g.17395831G>A	GRCh38
NC_000011.9:g.17417378G>A , CM000673.1:g.17417378G>A	GRCh37
NC_000011.8:g.17373954G>A	NCBI36
NG_008867.1:g.86072C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3799+21C>T
ENST00000528374.2:c.789+21C>T
ENST00000529967.6:n.2537+21C>T
ENST00000532220.2:n.3431+21C>T
ENST00000642611.2:n.5419C>T
ENST00000644057.2:n.662C>T
ENST00000645004.2:n.1697+21C>T
ENST00000682051.1:n.4360+21C>T
ENST00000682110.1:n.4413+21C>T
ENST00000682140.1:c.4064+21C>T	ENSP00000507829.1:n.4064+21C>T
ENST00000682185.1:n.5503+21C>T
ENST00000682204.1:c.*2336+21C>T	ENSP00000507094.1:n.*2336+21C>T
ENST00000682215.1:n.4780+21C>T
ENST00000682288.1:c.*2629+21C>T	ENSP00000507506.1:n.*2629+21C>T
ENST00000682442.1:n.4633+21C>T
ENST00000682528.1:n.4490+21C>T
ENST00000682673.1:n.4357+21C>T
ENST00000682805.1:n.4818+21C>T
ENST00000682965.1:c.*620+21C>T	ENSP00000508229.1:n.*620+21C>T
ENST00000683093.1:n.5497+21C>T
ENST00000683136.1:c.4081+21C>T	ENSP00000507768.1:n.4081+21C>T
ENST00000683153.1:n.4455+21C>T
ENST00000683365.1:n.4515+21C>T
ENST00000683377.1:n.4413+21C>T
ENST00000683456.1:c.*1335+21C>T	ENSP00000508318.1:n.*1335+21C>T
ENST00000683522.1:n.4413+21C>T
ENST00000683562.1:c.*2367+21C>T	ENSP00000508265.1:n.*2367+21C>T
ENST00000683693.1:n.5866C>T
ENST00000683725.1:c.4198+21C>T	ENSP00000507496.1:n.4198+21C>T
ENST00000684010.1:n.4408+21C>T
ENST00000684157.1:n.5398+21C>T
ENST00000684253.1:n.4316+21C>T
ENST00000684288.1:c.*2370+21C>T	ENSP00000507143.1:n.*2370+21C>T
ENST00000684313.1:n.3845+21C>T
ENST00000684332.1:n.4486+21C>T
ENST00000684371.1:n.4519+21C>T
ENST00000684404.1:n.5441+21C>T
ENST00000684442.1:n.4637+21C>T
ENST00000684555.1:c.*2410+21C>T	ENSP00000507705.1:n.*2410+21C>T
ENST00000684571.1:c.4039+21C>T	ENSP00000506935.1:n.4039+21C>T
ENST00000684593.1:c.*3903+21C>T	ENSP00000507005.1:n.*3903+21C>T
ENST00000684711.1:c.*2594+21C>T	ENSP00000506841.1:n.*2594+21C>T
ENST00000302539.9:c.4201+21C>T	ENSP00000303960.4:n.4201+21C>T
ENST00000389817.8:c.4198+21C>T MANE Select	ENSP00000374467.4:n.4198+21C>T
ENST00000642271.1:c.4195+21C>T	ENSP00000493749.1:n.4195+21C>T
ENST00000642579.1:c.2252+21C>T
ENST00000642611.1:n.5304C>T
ENST00000642902.1:c.3980+21C>T
ENST00000643260.1:c.4198+21C>T	ENSP00000494450.1:n.4198+21C>T
ENST00000643562.1:c.*2320+21C>T	ENSP00000496124.1:n.*2320+21C>T
ENST00000643925.1:c.2838+21C>T
ENST00000644057.1:n.275+21C>T
ENST00000644484.1:c.*3584+21C>T	ENSP00000493558.1:n.*3584+21C>T
ENST00000644675.1:c.*2370+21C>T	ENSP00000494567.1:n.*2370+21C>T
ENST00000644757.1:c.*3202+433C>T	ENSP00000495085.1:n.*3202+433C>T
ENST00000644772.1:c.4264+21C>T	ENSP00000494321.1:n.4264+21C>T
ENST00000645004.1:n.1891+21C>T
ENST00000645076.1:c.3397+21C>T
ENST00000645417.1:c.1386+21C>T
ENST00000645744.1:c.*3963+21C>T	ENSP00000494564.1:n.*3963+21C>T
ENST00000645760.1:c.4619+21C>T
ENST00000645884.1:c.*1481+21C>T	ENSP00000495516.1:n.*1481+21C>T
ENST00000646003.1:c.*2300+21C>T	ENSP00000495259.1:n.*2300+21C>T
ENST00000646207.1:c.*3035+21C>T	ENSP00000495025.1:n.*3035+21C>T
ENST00000646276.1:c.*3602+21C>T	ENSP00000496070.1:n.*3602+21C>T
ENST00000646592.1:c.3504+21C>T
ENST00000646902.1:c.4165+21C>T	ENSP00000494101.1:n.4165+21C>T
ENST00000646993.1:c.*2740+21C>T	ENSP00000493720.1:n.*2740+21C>T
ENST00000647013.1:c.4204+21C>T	ENSP00000496741.1:n.4204+21C>T
ENST00000647015.1:c.3949+21C>T	ENSP00000495389.1:n.3949+21C>T
ENST00000647086.1:c.*3784+21C>T	ENSP00000493677.1:n.*3784+21C>T
ENST00000647158.1:c.*2485+21C>T	ENSP00000495744.1:n.*2485+21C>T
ENST00000302539.8:c.4201+21C>T	ENSP00000303960.4:n.4201+21C>T
ENST00000389817.7:c.4198+21C>T	ENSP00000374467.3:n.4198+21C>T
ENST00000525022.1:n.85C>T
ENST00000526168.5:c.66+21C>T
ENST00000531642.5:c.34+21C>T
NM_000352.4:c.4198+21C>T	NP_000343.2:n.4198+21C>T
NM_001287174.1:c.4201+21C>T	NP_001274103.1:n.4201+21C>T
XM_011520331.1:c.4198+21C>T	XP_011518633.1:n.4198+21C>T
XM_011520332.1:c.4201+21C>T	XP_011518634.1:n.4201+21C>T
XM_011520333.1:c.2698+21C>T	XP_011518635.1:n.2698+21C>T
XR_930890.1:n.4264+21C>T
NM_001351295.1:c.4264+21C>T	NP_001338224.1:n.4264+21C>T
NM_001351296.1:c.4198+21C>T	NP_001338225.1:n.4198+21C>T
NM_001351297.1:c.4195+21C>T	NP_001338226.1:n.4195+21C>T
NR_147094.1:n.4493+21C>T
XM_017018197.2:c.4267+21C>T	XP_016873686.1:n.4267+21C>T
XM_017018199.1:c.4264+21C>T	XP_016873688.1:n.4264+21C>T
XM_017018201.2:c.4267+21C>T	XP_016873690.1:n.4267+21C>T
XM_017018202.1:c.2764+21C>T	XP_016873691.1:n.2764+21C>T
XM_017018204.1:c.2155+21C>T	XP_016873693.1:n.2155+21C>T
XM_024448668.1:c.2566+21C>T	XP_024304436.1:n.2566+21C>T
XR_001747945.2:n.4339+21C>T
XR_001747946.2:n.4270+21C>T
XR_002957189.1:n.5941C>T
NM_000352.6:c.4198+21C>T MANE Select	NP_000343.2:n.4198+21C>T
NM_001287174.2:c.4201+21C>T	NP_001274103.1:n.4201+21C>T
NM_001351295.2:c.4264+21C>T	NP_001338224.1:n.4264+21C>T
NM_001351296.2:c.4198+21C>T	NP_001338225.1:n.4198+21C>T
NM_001351297.2:c.4195+21C>T	NP_001338226.1:n.4195+21C>T
NR_147094.2:n.4493+21C>T
NM_001287174.3:c.4201+21C>T	NP_001274103.1:n.4201+21C>T