Canonical Allele Identifier: CA379803449

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428511A>G (hg19) ; chr11:g.17406964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406964A>G , CM000673.2:g.17406964A>G	GRCh38
NC_000011.9:g.17428511A>G , CM000673.1:g.17428511A>G	GRCh37
NC_000011.8:g.17385087A>G	NCBI36
NG_008867.1:g.74939T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2655T>C
ENST00000529967.6:n.1425T>C
ENST00000532220.2:n.818T>C
ENST00000642611.2:n.3155T>C
ENST00000645004.2:n.585T>C
ENST00000682051.1:n.3102T>C
ENST00000682110.1:n.3155T>C
ENST00000682140.1:c.3083T>C	ENSP00000507829.1:p.Ile1028Thr
ENST00000682185.1:n.4391T>C
ENST00000682204.1:c.*1224T>C	ENSP00000507094.1:n.*1224T>C
ENST00000682215.1:n.3152T>C
ENST00000682288.1:c.*1517T>C	ENSP00000507506.1:n.*1517T>C
ENST00000682442.1:n.3276T>C
ENST00000682528.1:n.3232T>C
ENST00000682673.1:n.3099T>C
ENST00000682805.1:n.3152T>C
ENST00000682965.1:c.3083T>C	ENSP00000508229.1:p.Ile1028Thr
ENST00000683093.1:n.3254T>C
ENST00000683136.1:c.3083T>C	ENSP00000507768.1:p.Ile1028Thr
ENST00000683153.1:n.3311T>C
ENST00000683365.1:n.3257T>C
ENST00000683377.1:n.3155T>C
ENST00000683456.1:c.*223T>C	ENSP00000508318.1:n.*223T>C
ENST00000683522.1:n.3155T>C
ENST00000683562.1:c.*1255T>C	ENSP00000508265.1:n.*1255T>C
ENST00000683693.1:n.3232T>C
ENST00000683725.1:c.3086T>C	ENSP00000507496.1:p.Ile1029Thr
ENST00000684010.1:n.3150T>C
ENST00000684157.1:n.3155T>C
ENST00000684253.1:n.3058T>C
ENST00000684288.1:c.*1258T>C	ENSP00000507143.1:n.*1258T>C
ENST00000684313.1:n.2587T>C
ENST00000684332.1:n.3228T>C
ENST00000684371.1:n.3261T>C
ENST00000684404.1:n.3198T>C
ENST00000684442.1:n.3155T>C
ENST00000684555.1:c.*1298T>C	ENSP00000507705.1:n.*1298T>C
ENST00000684571.1:c.2927T>C	ENSP00000506935.1:p.Ile976Thr
ENST00000684593.1:c.*2791T>C	ENSP00000507005.1:n.*2791T>C
ENST00000684711.1:c.*1482T>C	ENSP00000506841.1:n.*1482T>C
ENST00000302539.9:c.3089T>C	ENSP00000303960.4:p.Ile1030Thr
ENST00000389817.8:c.3086T>C MANE Select	ENSP00000374467.4:p.Ile1029Thr
ENST00000642271.1:c.3083T>C	ENSP00000493749.1:p.Ile1028Thr
ENST00000642579.1:c.1170T>C
ENST00000642611.1:n.3040T>C
ENST00000642902.1:c.2868T>C
ENST00000643260.1:c.3086T>C	ENSP00000494450.1:p.Ile1029Thr
ENST00000643562.1:c.*1062T>C	ENSP00000496124.1:n.*1062T>C
ENST00000643925.1:c.1210T>C
ENST00000644447.1:c.1442T>C	ENSP00000496282.1:p.Ile481Thr
ENST00000644484.1:c.*1341T>C	ENSP00000493558.1:n.*1341T>C
ENST00000644542.1:c.*2791T>C	ENSP00000495532.1:n.*2791T>C
ENST00000644675.1:c.*1258T>C	ENSP00000494567.1:n.*1258T>C
ENST00000644757.1:c.*1371T>C	ENSP00000495085.1:n.*1371T>C
ENST00000644772.1:c.3152T>C	ENSP00000494321.1:p.Ile1051Thr
ENST00000645004.1:n.225T>C
ENST00000645076.1:c.2285T>C
ENST00000645417.1:c.252T>C
ENST00000645744.1:c.*1350T>C	ENSP00000494564.1:n.*1350T>C
ENST00000645760.1:c.3361T>C
ENST00000645884.1:c.*223T>C	ENSP00000495516.1:n.*223T>C
ENST00000646003.1:c.*1042T>C	ENSP00000495259.1:n.*1042T>C
ENST00000646207.1:c.*1553T>C	ENSP00000495025.1:n.*1553T>C
ENST00000646276.1:c.*1359T>C	ENSP00000496070.1:n.*1359T>C
ENST00000646592.1:c.2392T>C
ENST00000646902.1:c.3083T>C	ENSP00000494101.1:p.Ile1028Thr
ENST00000646993.1:c.*1482T>C	ENSP00000493720.1:n.*1482T>C
ENST00000647013.1:c.3092T>C	ENSP00000496741.1:n.3092T>C
ENST00000647015.1:c.2837T>C	ENSP00000495389.1:p.Ile946Thr
ENST00000647086.1:c.*2816T>C	ENSP00000493677.1:n.*2816T>C
ENST00000647158.1:c.*1227T>C	ENSP00000495744.1:n.*1227T>C
ENST00000302539.8:c.3089T>C	ENSP00000303960.4:p.Ile1030Thr
ENST00000389817.7:c.3086T>C	ENSP00000374467.3:p.Ile1029Thr
ENST00000524561.1:n.218T>C
ENST00000526921.5:n.770T>C
ENST00000527905.5:c.2956T>C	ENSP00000431653.1:p.Ser986Pro
ENST00000529967.5:n.755T>C
NM_000352.4:c.3086T>C	NP_000343.2:p.Ile1029Thr
NM_001287174.1:c.3089T>C	NP_001274103.1:p.Ile1030Thr
XM_011520331.1:c.3086T>C	XP_011518633.1:p.Ile1029Thr
XM_011520332.1:c.3089T>C	XP_011518634.1:p.Ile1030Thr
XM_011520333.1:c.1586T>C	XP_011518635.1:p.Ile529Thr
XR_930890.1:n.3152T>C
XR_930891.1:n.3152T>C
XR_930892.1:n.3052T>C
XR_930893.1:n.3049T>C
NM_001351295.1:c.3152T>C	NP_001338224.1:p.Ile1051Thr
NM_001351296.1:c.3086T>C	NP_001338225.1:p.Ile1029Thr
NM_001351297.1:c.3083T>C	NP_001338226.1:p.Ile1028Thr
NR_147094.1:n.3235T>C
XM_017018197.2:c.3155T>C	XP_016873686.1:p.Ile1052Thr
XM_017018199.1:c.3152T>C	XP_016873688.1:p.Ile1051Thr
XM_017018201.2:c.3155T>C	XP_016873690.1:p.Ile1052Thr
XM_017018202.1:c.1652T>C	XP_016873691.1:p.Ile551Thr
XM_017018204.1:c.1043T>C	XP_016873693.1:p.Ile348Thr
XM_024448668.1:c.1454T>C	XP_024304436.1:p.Ile485Thr
XR_001747945.2:n.3227T>C
XR_001747946.2:n.3158T>C
XR_002957189.1:n.3307T>C
NM_000352.6:c.3086T>C MANE Select	NP_000343.2:p.Ile1029Thr
NM_001287174.2:c.3089T>C	NP_001274103.1:p.Ile1030Thr
NM_001351295.2:c.3152T>C	NP_001338224.1:p.Ile1051Thr
NM_001351296.2:c.3086T>C	NP_001338225.1:p.Ile1029Thr
NM_001351297.2:c.3083T>C	NP_001338226.1:p.Ile1028Thr
NR_147094.2:n.3235T>C
NM_001287174.3:c.3089T>C	NP_001274103.1:p.Ile1030Thr