Canonical Allele Identifier: CA379804284

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428652T>G (hg19) ; chr11:g.17407105T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407105T>G , CM000673.2:g.17407105T>G	GRCh38
NC_000011.9:g.17428652T>G , CM000673.1:g.17428652T>G	GRCh37
NC_000011.8:g.17385228T>G	NCBI36
NG_008867.1:g.74798A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2514A>C
ENST00000529967.6:n.1284A>C
ENST00000532220.2:n.677A>C
ENST00000642611.2:n.3014A>C
ENST00000645004.2:n.444A>C
ENST00000682051.1:n.2961A>C
ENST00000682110.1:n.3014A>C
ENST00000682140.1:c.2942A>C	ENSP00000507829.1:p.Asp981Ala
ENST00000682185.1:n.4250A>C
ENST00000682204.1:c.*1083A>C	ENSP00000507094.1:n.*1083A>C
ENST00000682215.1:n.3011A>C
ENST00000682288.1:c.*1376A>C	ENSP00000507506.1:n.*1376A>C
ENST00000682442.1:n.3135A>C
ENST00000682528.1:n.3091A>C
ENST00000682673.1:n.2958A>C
ENST00000682805.1:n.3011A>C
ENST00000682965.1:c.2942A>C	ENSP00000508229.1:p.Asp981Ala
ENST00000683093.1:n.3113A>C
ENST00000683136.1:c.2942A>C	ENSP00000507768.1:p.Asp981Ala
ENST00000683153.1:n.3170A>C
ENST00000683365.1:n.3116A>C
ENST00000683377.1:n.3014A>C
ENST00000683456.1:c.*82A>C	ENSP00000508318.1:n.*82A>C
ENST00000683522.1:n.3014A>C
ENST00000683562.1:c.*1114A>C	ENSP00000508265.1:n.*1114A>C
ENST00000683693.1:n.3091A>C
ENST00000683725.1:c.2945A>C	ENSP00000507496.1:p.Asp982Ala
ENST00000684010.1:n.3009A>C
ENST00000684157.1:n.3014A>C
ENST00000684253.1:n.2917A>C
ENST00000684288.1:c.*1117A>C	ENSP00000507143.1:n.*1117A>C
ENST00000684313.1:n.2446A>C
ENST00000684332.1:n.3087A>C
ENST00000684371.1:n.3120A>C
ENST00000684404.1:n.3057A>C
ENST00000684442.1:n.3014A>C
ENST00000684555.1:c.*1157A>C	ENSP00000507705.1:n.*1157A>C
ENST00000684571.1:c.2786A>C	ENSP00000506935.1:p.Asp929Ala
ENST00000684593.1:c.*2650A>C	ENSP00000507005.1:n.*2650A>C
ENST00000684711.1:c.*1341A>C	ENSP00000506841.1:n.*1341A>C
ENST00000302539.9:c.2948A>C	ENSP00000303960.4:p.Asp983Ala
ENST00000389817.8:c.2945A>C MANE Select	ENSP00000374467.4:p.Asp982Ala
ENST00000642271.1:c.2942A>C	ENSP00000493749.1:p.Asp981Ala
ENST00000642579.1:c.1029A>C
ENST00000642611.1:n.2899A>C
ENST00000642902.1:c.2756-29A>C
ENST00000643260.1:c.2945A>C	ENSP00000494450.1:p.Asp982Ala
ENST00000643562.1:c.*921A>C	ENSP00000496124.1:n.*921A>C
ENST00000643925.1:c.1069A>C
ENST00000644447.1:c.1301A>C	ENSP00000496282.1:p.Asp434Ala
ENST00000644484.1:c.*1200A>C	ENSP00000493558.1:n.*1200A>C
ENST00000644542.1:c.*2650A>C	ENSP00000495532.1:n.*2650A>C
ENST00000644675.1:c.*1117A>C	ENSP00000494567.1:n.*1117A>C
ENST00000644757.1:c.*1230A>C	ENSP00000495085.1:n.*1230A>C
ENST00000644772.1:c.3011A>C	ENSP00000494321.1:p.Asp1004Ala
ENST00000645004.1:n.84A>C
ENST00000645076.1:c.2173-29A>C
ENST00000645417.1:c.111A>C
ENST00000645744.1:c.*1209A>C	ENSP00000494564.1:n.*1209A>C
ENST00000645760.1:c.3220A>C
ENST00000645884.1:c.*82A>C	ENSP00000495516.1:n.*82A>C
ENST00000646003.1:c.*901A>C	ENSP00000495259.1:n.*901A>C
ENST00000646207.1:c.*1412A>C	ENSP00000495025.1:n.*1412A>C
ENST00000646276.1:c.*1218A>C	ENSP00000496070.1:n.*1218A>C
ENST00000646592.1:c.2251A>C
ENST00000646902.1:c.2942A>C	ENSP00000494101.1:p.Asp981Ala
ENST00000646993.1:c.*1341A>C	ENSP00000493720.1:n.*1341A>C
ENST00000647013.1:c.2951A>C	ENSP00000496741.1:n.2951A>C
ENST00000647015.1:c.2696A>C	ENSP00000495389.1:p.Asp899Ala
ENST00000647086.1:c.*2675A>C	ENSP00000493677.1:n.*2675A>C
ENST00000647158.1:c.*1086A>C	ENSP00000495744.1:n.*1086A>C
ENST00000302539.8:c.2948A>C	ENSP00000303960.4:p.Asp983Ala
ENST00000389817.7:c.2945A>C	ENSP00000374467.3:p.Asp982Ala
ENST00000524561.1:n.77A>C
ENST00000526921.5:n.629A>C
ENST00000527905.5:c.2815A>C	ENSP00000431653.1:p.Met939Leu
ENST00000529967.5:n.614A>C
NM_000352.4:c.2945A>C	NP_000343.2:p.Asp982Ala
NM_001287174.1:c.2948A>C	NP_001274103.1:p.Asp983Ala
XM_011520331.1:c.2945A>C	XP_011518633.1:p.Asp982Ala
XM_011520332.1:c.2948A>C	XP_011518634.1:p.Asp983Ala
XM_011520333.1:c.1445A>C	XP_011518635.1:p.Asp482Ala
XR_930890.1:n.3011A>C
XR_930891.1:n.3011A>C
XR_930892.1:n.2911A>C
XR_930893.1:n.2908A>C
NM_001351295.1:c.3011A>C	NP_001338224.1:p.Asp1004Ala
NM_001351296.1:c.2945A>C	NP_001338225.1:p.Asp982Ala
NM_001351297.1:c.2942A>C	NP_001338226.1:p.Asp981Ala
NR_147094.1:n.3094A>C
XM_017018197.2:c.3014A>C	XP_016873686.1:p.Asp1005Ala
XM_017018199.1:c.3011A>C	XP_016873688.1:p.Asp1004Ala
XM_017018201.2:c.3014A>C	XP_016873690.1:p.Asp1005Ala
XM_017018202.1:c.1511A>C	XP_016873691.1:p.Asp504Ala
XM_017018204.1:c.902A>C	XP_016873693.1:p.Asp301Ala
XM_024448668.1:c.1313A>C	XP_024304436.1:p.Asp438Ala
XR_001747945.2:n.3086A>C
XR_001747946.2:n.3017A>C
XR_002957189.1:n.3166A>C
NM_000352.6:c.2945A>C MANE Select	NP_000343.2:p.Asp982Ala
NM_001287174.2:c.2948A>C	NP_001274103.1:p.Asp983Ala
NM_001351295.2:c.3011A>C	NP_001338224.1:p.Asp1004Ala
NM_001351296.2:c.2945A>C	NP_001338225.1:p.Asp982Ala
NM_001351297.2:c.2942A>C	NP_001338226.1:p.Asp981Ala
NR_147094.2:n.3094A>C
NM_001287174.3:c.2948A>C	NP_001274103.1:p.Asp983Ala