Canonical Allele Identifier: CA473298279

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417406C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395859C>G , CM000673.2:g.17395859C>G	GRCh38
NC_000011.9:g.17417406C>G , CM000673.1:g.17417406C>G	GRCh37
NC_000011.8:g.17373982C>G	NCBI36
NG_008867.1:g.86044G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3792G>C
ENST00000528374.2:c.782G>C
ENST00000529967.6:n.2530G>C
ENST00000532220.2:n.3424G>C
ENST00000642611.2:n.5391G>C
ENST00000644057.2:n.634G>C
ENST00000645004.2:n.1690G>C
ENST00000682051.1:n.4353G>C
ENST00000682110.1:n.4406G>C
ENST00000682140.1:c.4057G>C	ENSP00000507829.1:p.Val1353Leu
ENST00000682185.1:n.5496G>C
ENST00000682204.1:c.*2329G>C	ENSP00000507094.1:n.*2329G>C
ENST00000682215.1:n.4773G>C
ENST00000682288.1:c.*2622G>C	ENSP00000507506.1:n.*2622G>C
ENST00000682442.1:n.4626G>C
ENST00000682528.1:n.4483G>C
ENST00000682673.1:n.4350G>C
ENST00000682805.1:n.4811G>C
ENST00000682965.1:c.*613G>C	ENSP00000508229.1:n.*613G>C
ENST00000683093.1:n.5490G>C
ENST00000683136.1:c.4074G>C	ENSP00000507768.1:p.Thr1358=
ENST00000683153.1:n.4448G>C
ENST00000683365.1:n.4508G>C
ENST00000683377.1:n.4406G>C
ENST00000683456.1:c.*1328G>C	ENSP00000508318.1:n.*1328G>C
ENST00000683522.1:n.4406G>C
ENST00000683562.1:c.*2360G>C	ENSP00000508265.1:n.*2360G>C
ENST00000683693.1:n.5838G>C
ENST00000683725.1:c.4191G>C	ENSP00000507496.1:p.Thr1397=
ENST00000684010.1:n.4401G>C
ENST00000684157.1:n.5391G>C
ENST00000684253.1:n.4309G>C
ENST00000684288.1:c.*2363G>C	ENSP00000507143.1:n.*2363G>C
ENST00000684313.1:n.3838G>C
ENST00000684332.1:n.4479G>C
ENST00000684371.1:n.4512G>C
ENST00000684404.1:n.5434G>C
ENST00000684442.1:n.4630G>C
ENST00000684555.1:c.*2403G>C	ENSP00000507705.1:n.*2403G>C
ENST00000684571.1:c.4032G>C	ENSP00000506935.1:p.Thr1344=
ENST00000684593.1:c.*3896G>C	ENSP00000507005.1:n.*3896G>C
ENST00000684711.1:c.*2587G>C	ENSP00000506841.1:n.*2587G>C
ENST00000302539.9:c.4194G>C	ENSP00000303960.4:p.Thr1398=
ENST00000389817.8:c.4191G>C MANE Select	ENSP00000374467.4:p.Thr1397=
ENST00000642271.1:c.4188G>C	ENSP00000493749.1:p.Thr1396=
ENST00000642579.1:c.2245G>C
ENST00000642611.1:n.5276G>C
ENST00000642902.1:c.3973G>C
ENST00000643260.1:c.4191G>C	ENSP00000494450.1:p.Thr1397=
ENST00000643562.1:c.*2313G>C	ENSP00000496124.1:n.*2313G>C
ENST00000643925.1:c.2831G>C
ENST00000644057.1:n.268G>C
ENST00000644484.1:c.*3577G>C	ENSP00000493558.1:n.*3577G>C
ENST00000644675.1:c.*2363G>C	ENSP00000494567.1:n.*2363G>C
ENST00000644757.1:c.*3202+405G>C	ENSP00000495085.1:n.*3202+405G>C
ENST00000644772.1:c.4257G>C	ENSP00000494321.1:p.Thr1419=
ENST00000645004.1:n.1884G>C
ENST00000645076.1:c.3390G>C
ENST00000645417.1:c.1379G>C
ENST00000645744.1:c.*3956G>C	ENSP00000494564.1:n.*3956G>C
ENST00000645760.1:c.4612G>C
ENST00000645884.1:c.*1474G>C	ENSP00000495516.1:n.*1474G>C
ENST00000646003.1:c.*2293G>C	ENSP00000495259.1:n.*2293G>C
ENST00000646207.1:c.*3028G>C	ENSP00000495025.1:n.*3028G>C
ENST00000646276.1:c.*3595G>C	ENSP00000496070.1:n.*3595G>C
ENST00000646592.1:c.3497G>C
ENST00000646902.1:c.4158G>C	ENSP00000494101.1:p.Thr1386=
ENST00000646993.1:c.*2733G>C	ENSP00000493720.1:n.*2733G>C
ENST00000647013.1:c.4197G>C	ENSP00000496741.1:n.4197G>C
ENST00000647015.1:c.3942G>C	ENSP00000495389.1:p.Thr1314=
ENST00000647086.1:c.*3777G>C	ENSP00000493677.1:n.*3777G>C
ENST00000647158.1:c.*2478G>C	ENSP00000495744.1:n.*2478G>C
ENST00000302539.8:c.4194G>C	ENSP00000303960.4:p.Thr1398=
ENST00000389817.7:c.4191G>C	ENSP00000374467.3:p.Thr1397=
ENST00000525022.1:n.57G>C
ENST00000526168.5:c.59G>C
ENST00000531642.5:c.27G>C
NM_000352.4:c.4191G>C	NP_000343.2:p.Thr1397=
NM_001287174.1:c.4194G>C	NP_001274103.1:p.Thr1398=
XM_011520331.1:c.4191G>C	XP_011518633.1:p.Thr1397=
XM_011520332.1:c.4194G>C	XP_011518634.1:p.Thr1398=
XM_011520333.1:c.2691G>C	XP_011518635.1:p.Thr897=
XR_930890.1:n.4257G>C
NM_001351295.1:c.4257G>C	NP_001338224.1:p.Thr1419=
NM_001351296.1:c.4191G>C	NP_001338225.1:p.Thr1397=
NM_001351297.1:c.4188G>C	NP_001338226.1:p.Thr1396=
NR_147094.1:n.4486G>C
XM_017018197.2:c.4260G>C	XP_016873686.1:p.Thr1420=
XM_017018199.1:c.4257G>C	XP_016873688.1:p.Thr1419=
XM_017018201.2:c.4260G>C	XP_016873690.1:p.Thr1420=
XM_017018202.1:c.2757G>C	XP_016873691.1:p.Thr919=
XM_017018204.1:c.2148G>C	XP_016873693.1:p.Thr716=
XM_024448668.1:c.2559G>C	XP_024304436.1:p.Thr853=
XR_001747945.2:n.4332G>C
XR_001747946.2:n.4263G>C
XR_002957189.1:n.5913G>C
NM_000352.6:c.4191G>C MANE Select	NP_000343.2:p.Thr1397=
NM_001287174.2:c.4194G>C	NP_001274103.1:p.Thr1398=
NM_001351295.2:c.4257G>C	NP_001338224.1:p.Thr1419=
NM_001351296.2:c.4191G>C	NP_001338225.1:p.Thr1397=
NM_001351297.2:c.4188G>C	NP_001338226.1:p.Thr1396=
NR_147094.2:n.4486G>C
NM_001287174.3:c.4194G>C	NP_001274103.1:p.Thr1398=