Canonical Allele Identifier: CA473516179

Gene: ABCC8

Linked Data

• COSMIC: COSM5680393
• MyVariant Identifiers: chr11:g.17428495G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406948G>T , CM000673.2:g.17406948G>T	GRCh38
NC_000011.9:g.17428495G>T , CM000673.1:g.17428495G>T	GRCh37
NC_000011.8:g.17385071G>T	NCBI36
NG_008867.1:g.74955C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2671C>A
ENST00000529967.6:n.1441C>A
ENST00000532220.2:n.834C>A
ENST00000642611.2:n.3171C>A
ENST00000645004.2:n.601C>A
ENST00000682051.1:n.3118C>A
ENST00000682110.1:n.3171C>A
ENST00000682140.1:c.3099C>A	ENSP00000507829.1:p.Ala1033=
ENST00000682185.1:n.4407C>A
ENST00000682204.1:c.*1240C>A	ENSP00000507094.1:n.*1240C>A
ENST00000682215.1:n.3168C>A
ENST00000682288.1:c.*1533C>A	ENSP00000507506.1:n.*1533C>A
ENST00000682442.1:n.3292C>A
ENST00000682528.1:n.3248C>A
ENST00000682673.1:n.3115C>A
ENST00000682805.1:n.3168C>A
ENST00000682965.1:c.3099C>A	ENSP00000508229.1:p.Ala1033=
ENST00000683093.1:n.3270C>A
ENST00000683136.1:c.3099C>A	ENSP00000507768.1:p.Ala1033=
ENST00000683153.1:n.3327C>A
ENST00000683365.1:n.3273C>A
ENST00000683377.1:n.3171C>A
ENST00000683456.1:c.*239C>A	ENSP00000508318.1:n.*239C>A
ENST00000683522.1:n.3171C>A
ENST00000683562.1:c.*1271C>A	ENSP00000508265.1:n.*1271C>A
ENST00000683693.1:n.3248C>A
ENST00000683725.1:c.3102C>A	ENSP00000507496.1:p.Ala1034=
ENST00000684010.1:n.3166C>A
ENST00000684157.1:n.3171C>A
ENST00000684253.1:n.3074C>A
ENST00000684288.1:c.*1274C>A	ENSP00000507143.1:n.*1274C>A
ENST00000684313.1:n.2603C>A
ENST00000684332.1:n.3244C>A
ENST00000684371.1:n.3277C>A
ENST00000684404.1:n.3214C>A
ENST00000684442.1:n.3171C>A
ENST00000684555.1:c.*1314C>A	ENSP00000507705.1:n.*1314C>A
ENST00000684571.1:c.2943C>A	ENSP00000506935.1:p.Ala981=
ENST00000684593.1:c.*2807C>A	ENSP00000507005.1:n.*2807C>A
ENST00000684711.1:c.*1498C>A	ENSP00000506841.1:n.*1498C>A
ENST00000302539.9:c.3105C>A	ENSP00000303960.4:p.Ala1035=
ENST00000389817.8:c.3102C>A MANE Select	ENSP00000374467.4:p.Ala1034=
ENST00000642271.1:c.3099C>A	ENSP00000493749.1:p.Ala1033=
ENST00000642579.1:c.1186C>A
ENST00000642611.1:n.3056C>A
ENST00000642902.1:c.2884C>A
ENST00000643260.1:c.3102C>A	ENSP00000494450.1:p.Ala1034=
ENST00000643562.1:c.*1078C>A	ENSP00000496124.1:n.*1078C>A
ENST00000643925.1:c.1226C>A
ENST00000644447.1:c.1458C>A	ENSP00000496282.1:p.Ala486=
ENST00000644484.1:c.*1357C>A	ENSP00000493558.1:n.*1357C>A
ENST00000644542.1:c.*2807C>A	ENSP00000495532.1:n.*2807C>A
ENST00000644675.1:c.*1274C>A	ENSP00000494567.1:n.*1274C>A
ENST00000644757.1:c.*1387C>A	ENSP00000495085.1:n.*1387C>A
ENST00000644772.1:c.3168C>A	ENSP00000494321.1:p.Ala1056=
ENST00000645004.1:n.241C>A
ENST00000645076.1:c.2301C>A
ENST00000645417.1:c.268C>A
ENST00000645744.1:c.*1366C>A	ENSP00000494564.1:n.*1366C>A
ENST00000645760.1:c.3377C>A
ENST00000645884.1:c.*239C>A	ENSP00000495516.1:n.*239C>A
ENST00000646003.1:c.*1058C>A	ENSP00000495259.1:n.*1058C>A
ENST00000646207.1:c.*1569C>A	ENSP00000495025.1:n.*1569C>A
ENST00000646276.1:c.*1375C>A	ENSP00000496070.1:n.*1375C>A
ENST00000646592.1:c.2408C>A
ENST00000646902.1:c.3099C>A	ENSP00000494101.1:p.Ala1033=
ENST00000646993.1:c.*1498C>A	ENSP00000493720.1:n.*1498C>A
ENST00000647013.1:c.3108C>A	ENSP00000496741.1:n.3108C>A
ENST00000647015.1:c.2853C>A	ENSP00000495389.1:p.Ala951=
ENST00000647086.1:c.*2832C>A	ENSP00000493677.1:n.*2832C>A
ENST00000647158.1:c.*1243C>A	ENSP00000495744.1:n.*1243C>A
ENST00000302539.8:c.3105C>A	ENSP00000303960.4:p.Ala1035=
ENST00000389817.7:c.3102C>A	ENSP00000374467.3:p.Ala1034=
ENST00000524561.1:n.234C>A
ENST00000526921.5:n.786C>A
ENST00000527905.5:c.2972C>A	ENSP00000431653.1:p.Pro991Gln
ENST00000529967.5:n.771C>A
NM_000352.4:c.3102C>A	NP_000343.2:p.Ala1034=
NM_001287174.1:c.3105C>A	NP_001274103.1:p.Ala1035=
XM_011520331.1:c.3102C>A	XP_011518633.1:p.Ala1034=
XM_011520332.1:c.3105C>A	XP_011518634.1:p.Ala1035=
XM_011520333.1:c.1602C>A	XP_011518635.1:p.Ala534=
XR_930890.1:n.3168C>A
XR_930891.1:n.3168C>A
XR_930892.1:n.3068C>A
XR_930893.1:n.3065C>A
NM_001351295.1:c.3168C>A	NP_001338224.1:p.Ala1056=
NM_001351296.1:c.3102C>A	NP_001338225.1:p.Ala1034=
NM_001351297.1:c.3099C>A	NP_001338226.1:p.Ala1033=
NR_147094.1:n.3251C>A
XM_017018197.2:c.3171C>A	XP_016873686.1:p.Ala1057=
XM_017018199.1:c.3168C>A	XP_016873688.1:p.Ala1056=
XM_017018201.2:c.3171C>A	XP_016873690.1:p.Ala1057=
XM_017018202.1:c.1668C>A	XP_016873691.1:p.Ala556=
XM_017018204.1:c.1059C>A	XP_016873693.1:p.Ala353=
XM_024448668.1:c.1470C>A	XP_024304436.1:p.Ala490=
XR_001747945.2:n.3243C>A
XR_001747946.2:n.3174C>A
XR_002957189.1:n.3323C>A
NM_000352.6:c.3102C>A MANE Select	NP_000343.2:p.Ala1034=
NM_001287174.2:c.3105C>A	NP_001274103.1:p.Ala1035=
NM_001351295.2:c.3168C>A	NP_001338224.1:p.Ala1056=
NM_001351296.2:c.3102C>A	NP_001338225.1:p.Ala1034=
NM_001351297.2:c.3099C>A	NP_001338226.1:p.Ala1033=
NR_147094.2:n.3251C>A
NM_001287174.3:c.3105C>A	NP_001274103.1:p.Ala1035=