Canonical Allele Identifier: CA379790153
Community Standard Title: NM_000352.6(ABCC8):c.4118A>C (p.Lys1373Thr)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396917T>G , CM000673.2:g.17396917T>G GRCh38
NC_000011.9:g.17418464T>G , CM000673.1:g.17418464T>G GRCh37
NC_000011.8:g.17375040T>G NCBI36
NG_008867.1:g.84986A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4118A>C MANE Select NP_000343.2:p.Lys1373Thr
ENST00000389817.8:c.4118A>C MANE Select ENSP00000374467.4:p.Lys1373Thr
NM_000352.4:c.4118A>C NP_000343.2:p.Lys1373Thr
NM_001287174.1:c.4121A>C NP_001274103.1:p.Lys1374Thr
NM_001287174.2:c.4121A>C NP_001274103.1:p.Lys1374Thr
NM_001287174.3:c.4121A>C NP_001274103.1:p.Lys1374Thr
NM_001351295.1:c.4184A>C NP_001338224.1:p.Lys1395Thr
NM_001351295.2:c.4184A>C NP_001338224.1:p.Lys1395Thr
NM_001351296.1:c.4118A>C NP_001338225.1:p.Lys1373Thr
NM_001351296.2:c.4118A>C NP_001338225.1:p.Lys1373Thr
NM_001351297.1:c.4115A>C NP_001338226.1:p.Lys1372Thr
NM_001351297.2:c.4115A>C NP_001338226.1:p.Lys1372Thr
NR_147094.1:n.4413A>C
NR_147094.2:n.4413A>C
ENST00000302539.8:c.4121A>C ENSP00000303960.4:p.Lys1374Thr
ENST00000302539.9:c.4121A>C ENSP00000303960.4:p.Lys1374Thr
ENST00000389817.7:c.4118A>C ENSP00000374467.3:p.Lys1373Thr
ENST00000524561.2:n.3719A>C
ENST00000527905.5:c.*1140A>C ENSP00000431653.1:n.*1140A>C
ENST00000528374.1:c.600A>C
ENST00000528374.2:c.709A>C
ENST00000529967.6:n.2457A>C
ENST00000532220.1:n.592A>C
ENST00000532220.2:n.2366A>C
ENST00000642271.1:c.4115A>C ENSP00000493749.1:p.Lys1372Thr
ENST00000642579.1:c.2172A>C
ENST00000642611.1:n.4218A>C
ENST00000642611.2:n.4333A>C
ENST00000642902.1:c.3900A>C
ENST00000643260.1:c.4118A>C ENSP00000494450.1:p.Lys1373Thr
ENST00000643562.1:c.*2240A>C ENSP00000496124.1:n.*2240A>C
ENST00000643925.1:c.2758A>C
ENST00000644057.1:n.195A>C
ENST00000644057.2:n.561A>C
ENST00000644484.1:c.*2519A>C ENSP00000493558.1:n.*2519A>C
ENST00000644675.1:c.*2290A>C ENSP00000494567.1:n.*2290A>C
ENST00000644757.1:c.*2549A>C ENSP00000495085.1:n.*2549A>C
ENST00000644772.1:c.4184A>C ENSP00000494321.1:p.Lys1395Thr
ENST00000645004.1:n.1773A>C
ENST00000645004.2:n.1617A>C
ENST00000645076.1:c.3317A>C
ENST00000645417.1:c.1306A>C
ENST00000645744.1:c.*2898A>C ENSP00000494564.1:n.*2898A>C
ENST00000645760.1:c.4539A>C
ENST00000645884.1:c.*1401A>C ENSP00000495516.1:n.*1401A>C
ENST00000646003.1:c.*2220A>C ENSP00000495259.1:n.*2220A>C
ENST00000646207.1:c.*2955A>C ENSP00000495025.1:n.*2955A>C
ENST00000646276.1:c.*2537A>C ENSP00000496070.1:n.*2537A>C
ENST00000646592.1:c.3424A>C
ENST00000646902.1:c.4085A>C ENSP00000494101.1:p.Lys1362Thr
ENST00000646993.1:c.*2660A>C ENSP00000493720.1:n.*2660A>C
ENST00000647013.1:c.4124A>C ENSP00000496741.1:n.4124A>C
ENST00000647015.1:c.3869A>C ENSP00000495389.1:p.Lys1290Thr
ENST00000647086.1:c.*3704A>C ENSP00000493677.1:n.*3704A>C
ENST00000647158.1:c.*2405A>C ENSP00000495744.1:n.*2405A>C
ENST00000682051.1:n.4280A>C
ENST00000682110.1:n.4333A>C
ENST00000682140.1:c.3985+276A>C ENSP00000507829.1:n.3985+276A>C
ENST00000682185.1:n.5423A>C
ENST00000682204.1:c.*2256A>C ENSP00000507094.1:n.*2256A>C
ENST00000682215.1:n.4700A>C
ENST00000682288.1:c.*2549A>C ENSP00000507506.1:n.*2549A>C
ENST00000682442.1:n.4553A>C
ENST00000682528.1:n.4410A>C
ENST00000682673.1:n.4277A>C
ENST00000682805.1:n.4700A>C
ENST00000682965.1:c.*540A>C ENSP00000508229.1:n.*540A>C
ENST00000683093.1:n.4432A>C
ENST00000683136.1:c.4001A>C ENSP00000507768.1:p.Lys1334Thr
ENST00000683153.1:n.4375A>C
ENST00000683365.1:n.4435A>C
ENST00000683377.1:n.4333A>C
ENST00000683456.1:c.*1255A>C ENSP00000508318.1:n.*1255A>C
ENST00000683522.1:n.4333A>C
ENST00000683562.1:c.*2287A>C ENSP00000508265.1:n.*2287A>C
ENST00000683693.1:n.4780A>C
ENST00000683725.1:c.4118A>C ENSP00000507496.1:p.Lys1373Thr
ENST00000684010.1:n.4328A>C
ENST00000684157.1:n.4333A>C
ENST00000684253.1:n.4236A>C
ENST00000684288.1:c.*2290A>C ENSP00000507143.1:n.*2290A>C
ENST00000684313.1:n.3765A>C
ENST00000684332.1:n.4406A>C
ENST00000684371.1:n.4439A>C
ENST00000684404.1:n.4376A>C
ENST00000684442.1:n.4557A>C
ENST00000684555.1:c.*2330A>C ENSP00000507705.1:n.*2330A>C
ENST00000684571.1:c.3959A>C ENSP00000506935.1:p.Lys1320Thr
ENST00000684593.1:c.*3823A>C ENSP00000507005.1:n.*3823A>C
ENST00000684711.1:c.*2514A>C ENSP00000506841.1:n.*2514A>C
XM_011520331.1:c.4118A>C XP_011518633.1:p.Lys1373Thr
XM_011520332.1:c.4121A>C XP_011518634.1:p.Lys1374Thr
XM_011520333.1:c.2618A>C XP_011518635.1:p.Lys873Thr
XM_017018197.2:c.4187A>C XP_016873686.1:p.Lys1396Thr
XM_017018199.1:c.4184A>C XP_016873688.1:p.Lys1395Thr
XM_017018201.2:c.4187A>C XP_016873690.1:p.Lys1396Thr
XM_017018202.1:c.2684A>C XP_016873691.1:p.Lys895Thr
XM_017018204.1:c.2075A>C XP_016873693.1:p.Lys692Thr
XM_024448668.1:c.2486A>C XP_024304436.1:p.Lys829Thr
XR_001747945.2:n.4259A>C
XR_001747946.2:n.4190A>C
XR_002957189.1:n.4855A>C
XR_930890.1:n.4184A>C