Canonical Allele Identifier: CA2612662176

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17413087-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17413087A>C , CM000673.2:g.17413087A>C	GRCh38
NC_000011.9:g.17434634A>C , CM000673.1:g.17434634A>C	GRCh37
NC_000011.8:g.17391210A>C	NCBI36
NG_008867.1:g.68816T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2144+307T>G
ENST00000529967.6:n.734+307T>G
ENST00000642611.2:n.2544+307T>G
ENST00000682051.1:n.2491+307T>G
ENST00000682110.1:n.2544+307T>G
ENST00000682140.1:c.2472+307T>G	ENSP00000507829.1:n.2472+307T>G
ENST00000682185.1:n.3780+307T>G
ENST00000682204.1:c.*613+307T>G	ENSP00000507094.1:n.*613+307T>G
ENST00000682215.1:n.2541+307T>G
ENST00000682288.1:c.*906+307T>G	ENSP00000507506.1:n.*906+307T>G
ENST00000682442.1:n.2665+307T>G
ENST00000682528.1:n.2541+307T>G
ENST00000682673.1:n.2488+307T>G
ENST00000682805.1:n.2541+307T>G
ENST00000682965.1:c.2472+307T>G	ENSP00000508229.1:n.2472+307T>G
ENST00000683093.1:n.2643+307T>G
ENST00000683136.1:c.2472+307T>G	ENSP00000507768.1:n.2472+307T>G
ENST00000683153.1:n.2700+307T>G
ENST00000683365.1:n.2646+307T>G
ENST00000683377.1:n.2544+307T>G
ENST00000683456.1:c.2475+307T>G	ENSP00000508318.1:n.2475+307T>G
ENST00000683522.1:n.2544+307T>G
ENST00000683562.1:c.*644+307T>G	ENSP00000508265.1:n.*644+307T>G
ENST00000683693.1:n.2541+307T>G
ENST00000683725.1:c.2475+307T>G	ENSP00000507496.1:n.2475+307T>G
ENST00000684010.1:n.2460-341T>G
ENST00000684157.1:n.2544+307T>G
ENST00000684253.1:n.2447+307T>G
ENST00000684288.1:c.*647+307T>G	ENSP00000507143.1:n.*647+307T>G
ENST00000684313.1:n.1976+307T>G
ENST00000684332.1:n.2617+307T>G
ENST00000684371.1:n.2650+307T>G
ENST00000684404.1:n.2541+307T>G
ENST00000684442.1:n.2544+307T>G
ENST00000684555.1:c.*687+307T>G	ENSP00000507705.1:n.*687+307T>G
ENST00000684571.1:c.2316+307T>G	ENSP00000506935.1:n.2316+307T>G
ENST00000684593.1:c.*2180+307T>G	ENSP00000507005.1:n.*2180+307T>G
ENST00000684711.1:c.*871+307T>G	ENSP00000506841.1:n.*871+307T>G
ENST00000302539.9:c.2478+307T>G	ENSP00000303960.4:n.2478+307T>G
ENST00000389817.8:c.2475+307T>G MANE Select	ENSP00000374467.4:n.2475+307T>G
ENST00000642271.1:c.2472+307T>G	ENSP00000493749.1:n.2472+307T>G
ENST00000642579.1:c.559+307T>G
ENST00000642611.1:n.2429+307T>G
ENST00000642902.1:c.2310+307T>G
ENST00000643260.1:c.2475+307T>G	ENSP00000494450.1:n.2475+307T>G
ENST00000643562.1:c.*451+307T>G	ENSP00000496124.1:n.*451+307T>G
ENST00000643925.1:c.416-110T>G
ENST00000644447.1:c.831+307T>G	ENSP00000496282.1:n.831+307T>G
ENST00000644472.1:c.*836+307T>G	ENSP00000495378.1:n.*836+307T>G
ENST00000644484.1:c.*684+307T>G	ENSP00000493558.1:n.*684+307T>G
ENST00000644542.1:c.*2180+307T>G	ENSP00000495532.1:n.*2180+307T>G
ENST00000644675.1:c.*647+307T>G	ENSP00000494567.1:n.*647+307T>G
ENST00000644757.1:c.*780+307T>G	ENSP00000495085.1:n.*780+307T>G
ENST00000644772.1:c.2541+307T>G	ENSP00000494321.1:n.2541+307T>G
ENST00000645076.1:c.1727+307T>G
ENST00000645744.1:c.*839+307T>G	ENSP00000494564.1:n.*839+307T>G
ENST00000645760.1:c.2750+307T>G
ENST00000645884.1:c.2475+307T>G	ENSP00000495516.1:n.2475+307T>G
ENST00000646003.1:c.*532-341T>G	ENSP00000495259.1:n.*532-341T>G
ENST00000646207.1:c.*839+307T>G	ENSP00000495025.1:n.*839+307T>G
ENST00000646276.1:c.*748+307T>G	ENSP00000496070.1:n.*748+307T>G
ENST00000646592.1:c.1701+307T>G
ENST00000646902.1:c.2472+307T>G	ENSP00000494101.1:n.2472+307T>G
ENST00000646993.1:c.*871+307T>G	ENSP00000493720.1:n.*871+307T>G
ENST00000647013.1:c.2481+307T>G	ENSP00000496741.1:n.2481+307T>G
ENST00000647015.1:c.2226+307T>G	ENSP00000495389.1:n.2226+307T>G
ENST00000647086.1:c.*2205+307T>G	ENSP00000493677.1:n.*2205+307T>G
ENST00000647158.1:c.*616+307T>G	ENSP00000495744.1:n.*616+307T>G
ENST00000302539.8:c.2478+307T>G	ENSP00000303960.4:n.2478+307T>G
ENST00000389817.7:c.2475+307T>G	ENSP00000374467.3:n.2475+307T>G
ENST00000526921.5:n.159+307T>G
ENST00000527905.5:c.2445+307T>G	ENSP00000431653.1:n.2445+307T>G
ENST00000529967.5:n.144+307T>G
ENST00000530147.5:n.59-341T>G
ENST00000531911.1:n.589+307T>G
NM_000352.4:c.2475+307T>G	NP_000343.2:n.2475+307T>G
NM_001287174.1:c.2478+307T>G	NP_001274103.1:n.2478+307T>G
XM_011520331.1:c.2475+307T>G	XP_011518633.1:n.2475+307T>G
XM_011520332.1:c.2478+307T>G	XP_011518634.1:n.2478+307T>G
XM_011520333.1:c.975+307T>G	XP_011518635.1:n.975+307T>G
XM_011520334.1:c.2478+307T>G	XP_011518636.1:n.2478+307T>G
XR_930890.1:n.2541+307T>G
XR_930891.1:n.2541+307T>G
XR_930892.1:n.2541+307T>G
XR_930893.1:n.2538+307T>G
NM_001351295.1:c.2541+307T>G	NP_001338224.1:n.2541+307T>G
NM_001351296.1:c.2475+307T>G	NP_001338225.1:n.2475+307T>G
NM_001351297.1:c.2472+307T>G	NP_001338226.1:n.2472+307T>G
NR_147094.1:n.2544+307T>G
XM_017018197.2:c.2544+307T>G	XP_016873686.1:n.2544+307T>G
XM_017018199.1:c.2541+307T>G	XP_016873688.1:n.2541+307T>G
XM_017018201.2:c.2544+307T>G	XP_016873690.1:n.2544+307T>G
XM_017018202.1:c.1041+307T>G	XP_016873691.1:n.1041+307T>G
XM_017018204.1:c.432+307T>G	XP_016873693.1:n.432+307T>G
XM_024448668.1:c.843+307T>G	XP_024304436.1:n.843+307T>G
XR_001747945.2:n.2616+307T>G
XR_001747946.2:n.2547+307T>G
XR_002957189.1:n.2616+307T>G
NM_000352.6:c.2475+307T>G MANE Select	NP_000343.2:n.2475+307T>G
NM_001287174.2:c.2478+307T>G	NP_001274103.1:n.2478+307T>G
NM_001351295.2:c.2541+307T>G	NP_001338224.1:n.2541+307T>G
NM_001351296.2:c.2475+307T>G	NP_001338225.1:n.2475+307T>G
NM_001351297.2:c.2472+307T>G	NP_001338226.1:n.2472+307T>G
NR_147094.2:n.2544+307T>G
NM_001287174.3:c.2478+307T>G	NP_001274103.1:n.2478+307T>G