Canonical Allele Identifier: CA379808941

Gene: ABCC8

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17414510A>G , CM000673.2:g.17414510A>G	GRCh38
NC_000011.9:g.17436057A>G , CM000673.1:g.17436057A>G	GRCh37
NC_000011.8:g.17392633A>G	NCBI36
NG_008867.1:g.67393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2059+2T>C
ENST00000529967.6:n.649+2T>C
ENST00000642611.2:n.2459+2T>C
ENST00000682051.1:n.2406+2T>C
ENST00000682110.1:n.2459+2T>C
ENST00000682140.1:c.2387+2T>C	ENSP00000507829.1:n.2387+2T>C
ENST00000682185.1:n.3695+2T>C
ENST00000682204.1:c.*528+2T>C	ENSP00000507094.1:n.*528+2T>C
ENST00000682215.1:n.2456+2T>C
ENST00000682288.1:c.*821+2T>C	ENSP00000507506.1:n.*821+2T>C
ENST00000682442.1:n.2580+2T>C
ENST00000682528.1:n.2456+2T>C
ENST00000682673.1:n.2403+2T>C
ENST00000682805.1:n.2456+2T>C
ENST00000682965.1:c.2387+2T>C	ENSP00000508229.1:n.2387+2T>C
ENST00000683093.1:n.2558+2T>C
ENST00000683136.1:c.2387+2T>C	ENSP00000507768.1:n.2387+2T>C
ENST00000683153.1:n.2615+2T>C
ENST00000683365.1:n.2561+2T>C
ENST00000683377.1:n.2459+2T>C
ENST00000683456.1:c.2390+2T>C	ENSP00000508318.1:n.2390+2T>C
ENST00000683522.1:n.2459+2T>C
ENST00000683562.1:c.*559+2T>C	ENSP00000508265.1:n.*559+2T>C
ENST00000683693.1:n.2456+2T>C
ENST00000683725.1:c.2390+2T>C	ENSP00000507496.1:n.2390+2T>C
ENST00000684010.1:n.2459+2T>C
ENST00000684157.1:n.2459+2T>C
ENST00000684253.1:n.2362+2T>C
ENST00000684288.1:c.*562+2T>C	ENSP00000507143.1:n.*562+2T>C
ENST00000684313.1:n.1891+2T>C
ENST00000684332.1:n.2532+2T>C
ENST00000684371.1:n.2565+2T>C
ENST00000684404.1:n.2456+2T>C
ENST00000684442.1:n.2459+2T>C
ENST00000684555.1:c.*602+2T>C	ENSP00000507705.1:n.*602+2T>C
ENST00000684571.1:c.2231+2T>C	ENSP00000506935.1:n.2231+2T>C
ENST00000684593.1:c.*2095+2T>C	ENSP00000507005.1:n.*2095+2T>C
ENST00000684711.1:c.*786+2T>C	ENSP00000506841.1:n.*786+2T>C
ENST00000302539.9:c.2393+2T>C	ENSP00000303960.4:n.2393+2T>C
ENST00000389817.8:c.2390+2T>C MANE Select	ENSP00000374467.4:n.2390+2T>C
ENST00000642271.1:c.2387+2T>C	ENSP00000493749.1:n.2387+2T>C
ENST00000642579.1:c.474+2T>C
ENST00000642611.1:n.2344+2T>C
ENST00000642902.1:c.2225+2T>C
ENST00000643260.1:c.2390+2T>C	ENSP00000494450.1:n.2390+2T>C
ENST00000643562.1:c.*366+2T>C	ENSP00000496124.1:n.*366+2T>C
ENST00000643925.1:c.330+2T>C
ENST00000644447.1:c.746+2T>C	ENSP00000496282.1:n.746+2T>C
ENST00000644472.1:c.*751+2T>C	ENSP00000495378.1:n.*751+2T>C
ENST00000644484.1:c.*599+2T>C	ENSP00000493558.1:n.*599+2T>C
ENST00000644542.1:c.*2095+2T>C	ENSP00000495532.1:n.*2095+2T>C
ENST00000644675.1:c.*562+2T>C	ENSP00000494567.1:n.*562+2T>C
ENST00000644757.1:c.*695+2T>C	ENSP00000495085.1:n.*695+2T>C
ENST00000644772.1:c.2456+2T>C	ENSP00000494321.1:n.2456+2T>C
ENST00000645076.1:c.1642+2T>C
ENST00000645744.1:c.*754+2T>C	ENSP00000494564.1:n.*754+2T>C
ENST00000645760.1:c.2665+2T>C
ENST00000645884.1:c.2390+2T>C	ENSP00000495516.1:n.2390+2T>C
ENST00000646003.1:c.*531+2T>C	ENSP00000495259.1:n.*531+2T>C
ENST00000646207.1:c.*754+2T>C	ENSP00000495025.1:n.*754+2T>C
ENST00000646276.1:c.*663+2T>C	ENSP00000496070.1:n.*663+2T>C
ENST00000646592.1:c.1616+2T>C
ENST00000646902.1:c.2387+2T>C	ENSP00000494101.1:n.2387+2T>C
ENST00000646993.1:c.*786+2T>C	ENSP00000493720.1:n.*786+2T>C
ENST00000647013.1:c.2396+2T>C	ENSP00000496741.1:n.2396+2T>C
ENST00000647015.1:c.2141+2T>C	ENSP00000495389.1:n.2141+2T>C
ENST00000647086.1:c.*2120+2T>C	ENSP00000493677.1:n.*2120+2T>C
ENST00000647158.1:c.*531+2T>C	ENSP00000495744.1:n.*531+2T>C
ENST00000302539.8:c.2393+2T>C	ENSP00000303960.4:n.2393+2T>C
ENST00000389817.7:c.2390+2T>C	ENSP00000374467.3:n.2390+2T>C
ENST00000527905.5:c.2360+2T>C	ENSP00000431653.1:n.2360+2T>C
ENST00000529967.5:n.59+2T>C
ENST00000531911.1:n.504+2T>C
NM_000352.4:c.2390+2T>C	NP_000343.2:n.2390+2T>C
NM_001287174.1:c.2393+2T>C	NP_001274103.1:n.2393+2T>C
XM_011520331.1:c.2390+2T>C	XP_011518633.1:n.2390+2T>C
XM_011520332.1:c.2393+2T>C	XP_011518634.1:n.2393+2T>C
XM_011520333.1:c.890+2T>C	XP_011518635.1:n.890+2T>C
XM_011520334.1:c.2393+2T>C	XP_011518636.1:n.2393+2T>C
XR_930890.1:n.2456+2T>C
XR_930891.1:n.2456+2T>C
XR_930892.1:n.2456+2T>C
XR_930893.1:n.2453+2T>C
NM_001351295.1:c.2456+2T>C	NP_001338224.1:n.2456+2T>C
NM_001351296.1:c.2390+2T>C	NP_001338225.1:n.2390+2T>C
NM_001351297.1:c.2387+2T>C	NP_001338226.1:n.2387+2T>C
NR_147094.1:n.2459+2T>C
XM_017018197.2:c.2459+2T>C	XP_016873686.1:n.2459+2T>C
XM_017018199.1:c.2456+2T>C	XP_016873688.1:n.2456+2T>C
XM_017018201.2:c.2459+2T>C	XP_016873690.1:n.2459+2T>C
XM_017018202.1:c.956+2T>C	XP_016873691.1:n.956+2T>C
XM_017018204.1:c.347+2T>C	XP_016873693.1:n.347+2T>C
XM_024448668.1:c.758+2T>C	XP_024304436.1:n.758+2T>C
XR_001747945.2:n.2531+2T>C
XR_001747946.2:n.2462+2T>C
XR_002957189.1:n.2531+2T>C
NM_000352.6:c.2390+2T>C MANE Select	NP_000343.2:n.2390+2T>C
NM_001287174.2:c.2393+2T>C	NP_001274103.1:n.2393+2T>C
NM_001351295.2:c.2456+2T>C	NP_001338224.1:n.2456+2T>C
NM_001351296.2:c.2390+2T>C	NP_001338225.1:n.2390+2T>C
NM_001351297.2:c.2387+2T>C	NP_001338226.1:n.2387+2T>C
NR_147094.2:n.2459+2T>C
NM_001287174.3:c.2393+2T>C	NP_001274103.1:n.2393+2T>C