Canonical Allele Identifier: CA2612637833

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395046-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395046C>G , CM000673.2:g.17395046C>G	GRCh38
NC_000011.9:g.17416593C>G , CM000673.1:g.17416593C>G	GRCh37
NC_000011.8:g.17373169C>G	NCBI36
NG_008867.1:g.86857G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4012+126G>C
ENST00000526037.6:n.346+126G>C
ENST00000528374.2:c.1002+126G>C
ENST00000529967.6:n.2750+126G>C
ENST00000532220.2:n.3644+126G>C
ENST00000642611.2:n.5744+126G>C
ENST00000644057.2:n.987+126G>C
ENST00000645004.2:n.1910+126G>C
ENST00000682051.1:n.4573+126G>C
ENST00000682110.1:n.4626+126G>C
ENST00000682140.1:c.*197+126G>C	ENSP00000507829.1:n.*197+126G>C
ENST00000682185.1:n.5716+126G>C
ENST00000682204.1:c.*2549+126G>C	ENSP00000507094.1:n.*2549+126G>C
ENST00000682215.1:n.4993+126G>C
ENST00000682288.1:c.*2842+126G>C	ENSP00000507506.1:n.*2842+126G>C
ENST00000682442.1:n.4846+126G>C
ENST00000682528.1:n.4703+126G>C
ENST00000682673.1:n.4570+126G>C
ENST00000682805.1:n.5031+126G>C
ENST00000682965.1:c.*833+126G>C	ENSP00000508229.1:n.*833+126G>C
ENST00000683093.1:n.5606+564G>C
ENST00000683136.1:c.4294+126G>C	ENSP00000507768.1:n.4294+126G>C
ENST00000683153.1:n.4668+126G>C
ENST00000683365.1:n.4728+126G>C
ENST00000683377.1:n.4522+564G>C
ENST00000683456.1:c.*1548+126G>C	ENSP00000508318.1:n.*1548+126G>C
ENST00000683522.1:n.4708+44G>C
ENST00000683562.1:c.*2476+564G>C	ENSP00000508265.1:n.*2476+564G>C
ENST00000683693.1:n.6087+564G>C
ENST00000683725.1:c.4307+564G>C	ENSP00000507496.1:n.4307+564G>C
ENST00000684010.1:n.4621+126G>C
ENST00000684157.1:n.5611+126G>C
ENST00000684253.1:n.4529+126G>C
ENST00000684288.1:c.*2583+126G>C	ENSP00000507143.1:n.*2583+126G>C
ENST00000684313.1:n.4058+126G>C
ENST00000684332.1:n.4699+126G>C
ENST00000684371.1:n.4732+126G>C
ENST00000684404.1:n.5654+126G>C
ENST00000684442.1:n.4850+126G>C
ENST00000684555.1:c.*2623+126G>C	ENSP00000507705.1:n.*2623+126G>C
ENST00000684571.1:c.4252+126G>C	ENSP00000506935.1:n.4252+126G>C
ENST00000684593.1:c.*4116+126G>C	ENSP00000507005.1:n.*4116+126G>C
ENST00000684711.1:c.*2807+126G>C	ENSP00000506841.1:n.*2807+126G>C
ENST00000302539.9:c.4414+126G>C	ENSP00000303960.4:n.4414+126G>C
ENST00000389817.8:c.4411+126G>C MANE Select	ENSP00000374467.4:n.4411+126G>C
ENST00000642271.1:c.4408+126G>C	ENSP00000493749.1:n.4408+126G>C
ENST00000642579.1:c.2465+126G>C
ENST00000642611.1:n.5629+126G>C
ENST00000642902.1:c.4193+126G>C
ENST00000643260.1:c.4411+126G>C	ENSP00000494450.1:n.4411+126G>C
ENST00000643562.1:c.*2533+126G>C	ENSP00000496124.1:n.*2533+126G>C
ENST00000643925.1:c.3051+126G>C
ENST00000644057.1:n.570+44G>C
ENST00000644484.1:c.*3797+126G>C	ENSP00000493558.1:n.*3797+126G>C
ENST00000644675.1:c.*2583+126G>C	ENSP00000494567.1:n.*2583+126G>C
ENST00000644757.1:c.*3202+1218G>C	ENSP00000495085.1:n.*3202+1218G>C
ENST00000644772.1:c.4477+126G>C	ENSP00000494321.1:n.4477+126G>C
ENST00000645004.1:n.2104+126G>C
ENST00000645076.1:c.3506+564G>C
ENST00000645417.1:c.1599+126G>C
ENST00000645744.1:c.*4096+126G>C	ENSP00000494564.1:n.*4096+126G>C
ENST00000645760.1:c.4832+126G>C
ENST00000645884.1:c.*1694+126G>C	ENSP00000495516.1:n.*1694+126G>C
ENST00000646003.1:c.*2433+126G>C	ENSP00000495259.1:n.*2433+126G>C
ENST00000646207.1:c.*3248+126G>C	ENSP00000495025.1:n.*3248+126G>C
ENST00000646276.1:c.*3815+126G>C	ENSP00000496070.1:n.*3815+126G>C
ENST00000646592.1:c.3717+126G>C
ENST00000646902.1:c.4378+126G>C	ENSP00000494101.1:n.4378+126G>C
ENST00000646993.1:c.*2849+564G>C	ENSP00000493720.1:n.*2849+564G>C
ENST00000647013.1:c.4417+126G>C	ENSP00000496741.1:n.4417+126G>C
ENST00000647015.1:c.4162+126G>C	ENSP00000495389.1:n.4162+126G>C
ENST00000647086.1:c.*3997+126G>C	ENSP00000493677.1:n.*3997+126G>C
ENST00000647158.1:c.*2698+126G>C	ENSP00000495744.1:n.*2698+126G>C
ENST00000302539.8:c.4414+126G>C	ENSP00000303960.4:n.4414+126G>C
ENST00000389817.7:c.4411+126G>C	ENSP00000374467.3:n.4411+126G>C
ENST00000525022.1:n.306+564G>C
ENST00000526037.5:n.171+564G>C
ENST00000526168.5:c.199+126G>C
ENST00000531642.5:c.442+126G>C
NM_000352.4:c.4411+126G>C	NP_000343.2:n.4411+126G>C
NM_001287174.1:c.4414+126G>C	NP_001274103.1:n.4414+126G>C
XM_011520331.1:c.4411+126G>C	XP_011518633.1:n.4411+126G>C
XM_011520332.1:c.4310+564G>C	XP_011518634.1:n.4310+564G>C
XM_011520333.1:c.2911+126G>C	XP_011518635.1:n.2911+126G>C
XR_930890.1:n.4373+564G>C
NM_001351295.1:c.4477+126G>C	NP_001338224.1:n.4477+126G>C
NM_001351296.1:c.4411+126G>C	NP_001338225.1:n.4411+126G>C
NM_001351297.1:c.4408+126G>C	NP_001338226.1:n.4408+126G>C
NR_147094.1:n.4706+126G>C
XM_017018197.2:c.4480+126G>C	XP_016873686.1:n.4480+126G>C
XM_017018199.1:c.4477+126G>C	XP_016873688.1:n.4477+126G>C
XM_017018201.2:c.4376+564G>C	XP_016873690.1:n.4376+564G>C
XM_017018202.1:c.2977+126G>C	XP_016873691.1:n.2977+126G>C
XM_017018204.1:c.2368+126G>C	XP_016873693.1:n.2368+126G>C
XM_024448668.1:c.2779+126G>C	XP_024304436.1:n.2779+126G>C
XR_001747945.2:n.4448+564G>C
XR_001747946.2:n.4379+564G>C
XR_002957189.1:n.6162+564G>C
NM_000352.6:c.4411+126G>C MANE Select	NP_000343.2:n.4411+126G>C
NM_001287174.2:c.4414+126G>C	NP_001274103.1:n.4414+126G>C
NM_001351295.2:c.4477+126G>C	NP_001338224.1:n.4477+126G>C
NM_001351296.2:c.4411+126G>C	NP_001338225.1:n.4411+126G>C
NM_001351297.2:c.4408+126G>C	NP_001338226.1:n.4408+126G>C
NR_147094.2:n.4706+126G>C
NM_001287174.3:c.4414+126G>C	NP_001274103.1:n.4414+126G>C