Canonical Allele Identifier: CA473515903

Gene: ABCC8

Linked Data

• COSMIC: COSM5580102
• MyVariant Identifiers: chr11:g.17428288G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406741G>A , CM000673.2:g.17406741G>A	GRCh38
NC_000011.9:g.17428288G>A , CM000673.1:g.17428288G>A	GRCh37
NC_000011.8:g.17384864G>A	NCBI36
NG_008867.1:g.75162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2779C>T
ENST00000529967.6:n.1549C>T
ENST00000532220.2:n.942C>T
ENST00000642611.2:n.3279C>T
ENST00000645004.2:n.709C>T
ENST00000682051.1:n.3226C>T
ENST00000682110.1:n.3279C>T
ENST00000682140.1:c.3207C>T	ENSP00000507829.1:p.Leu1069=
ENST00000682185.1:n.4515C>T
ENST00000682204.1:c.*1348C>T	ENSP00000507094.1:n.*1348C>T
ENST00000682215.1:n.3276C>T
ENST00000682288.1:c.*1641C>T	ENSP00000507506.1:n.*1641C>T
ENST00000682442.1:n.3499C>T
ENST00000682528.1:n.3356C>T
ENST00000682673.1:n.3223C>T
ENST00000682805.1:n.3276C>T
ENST00000682965.1:c.3207C>T	ENSP00000508229.1:p.Leu1069=
ENST00000683093.1:n.3378C>T
ENST00000683136.1:c.3207C>T	ENSP00000507768.1:p.Leu1069=
ENST00000683153.1:n.3435C>T
ENST00000683365.1:n.3381C>T
ENST00000683377.1:n.3279C>T
ENST00000683456.1:c.*347C>T	ENSP00000508318.1:n.*347C>T
ENST00000683522.1:n.3279C>T
ENST00000683562.1:c.*1379C>T	ENSP00000508265.1:n.*1379C>T
ENST00000683693.1:n.3356C>T
ENST00000683725.1:c.3210C>T	ENSP00000507496.1:p.Leu1070=
ENST00000684010.1:n.3274C>T
ENST00000684157.1:n.3279C>T
ENST00000684253.1:n.3182C>T
ENST00000684288.1:c.*1382C>T	ENSP00000507143.1:n.*1382C>T
ENST00000684313.1:n.2711C>T
ENST00000684332.1:n.3352C>T
ENST00000684371.1:n.3385C>T
ENST00000684404.1:n.3322C>T
ENST00000684442.1:n.3279C>T
ENST00000684555.1:c.*1422C>T	ENSP00000507705.1:n.*1422C>T
ENST00000684571.1:c.3051C>T	ENSP00000506935.1:p.Leu1017=
ENST00000684593.1:c.*2915C>T	ENSP00000507005.1:n.*2915C>T
ENST00000684711.1:c.*1606C>T	ENSP00000506841.1:n.*1606C>T
ENST00000302539.9:c.3213C>T	ENSP00000303960.4:p.Leu1071=
ENST00000389817.8:c.3210C>T MANE Select	ENSP00000374467.4:p.Leu1070=
ENST00000642271.1:c.3207C>T	ENSP00000493749.1:p.Leu1069=
ENST00000642579.1:c.1294C>T
ENST00000642611.1:n.3164C>T
ENST00000642902.1:c.2992C>T
ENST00000643260.1:c.3210C>T	ENSP00000494450.1:p.Leu1070=
ENST00000643562.1:c.*1186C>T	ENSP00000496124.1:n.*1186C>T
ENST00000643925.1:c.1334C>T
ENST00000644447.1:c.1566C>T	ENSP00000496282.1:p.Leu522=
ENST00000644484.1:c.*1465C>T	ENSP00000493558.1:n.*1465C>T
ENST00000644542.1:c.*3014C>T	ENSP00000495532.1:n.*3014C>T
ENST00000644675.1:c.*1382C>T	ENSP00000494567.1:n.*1382C>T
ENST00000644757.1:c.*1495C>T	ENSP00000495085.1:n.*1495C>T
ENST00000644772.1:c.3276C>T	ENSP00000494321.1:p.Leu1092=
ENST00000645004.1:n.349C>T
ENST00000645076.1:c.2409C>T
ENST00000645417.1:c.376C>T
ENST00000645744.1:c.*1474C>T	ENSP00000494564.1:n.*1474C>T
ENST00000645760.1:c.3485C>T
ENST00000645884.1:c.*347C>T	ENSP00000495516.1:n.*347C>T
ENST00000646003.1:c.*1166C>T	ENSP00000495259.1:n.*1166C>T
ENST00000646207.1:c.*1677C>T	ENSP00000495025.1:n.*1677C>T
ENST00000646276.1:c.*1483C>T	ENSP00000496070.1:n.*1483C>T
ENST00000646592.1:c.2516C>T
ENST00000646902.1:c.3207C>T	ENSP00000494101.1:p.Leu1069=
ENST00000646993.1:c.*1606C>T	ENSP00000493720.1:n.*1606C>T
ENST00000647013.1:c.3216C>T	ENSP00000496741.1:n.3216C>T
ENST00000647015.1:c.2961C>T	ENSP00000495389.1:p.Leu987=
ENST00000647086.1:c.*2940C>T	ENSP00000493677.1:n.*2940C>T
ENST00000647158.1:c.*1351C>T	ENSP00000495744.1:n.*1351C>T
ENST00000302539.8:c.3213C>T	ENSP00000303960.4:p.Leu1071=
ENST00000389817.7:c.3210C>T	ENSP00000374467.3:p.Leu1070=
ENST00000524561.1:n.342C>T
ENST00000526921.5:n.894C>T
ENST00000527905.5:c.*86C>T	ENSP00000431653.1:n.*86C>T
NM_000352.4:c.3210C>T	NP_000343.2:p.Leu1070=
NM_001287174.1:c.3213C>T	NP_001274103.1:p.Leu1071=
XM_011520331.1:c.3210C>T	XP_011518633.1:p.Leu1070=
XM_011520332.1:c.3213C>T	XP_011518634.1:p.Leu1071=
XM_011520333.1:c.1710C>T	XP_011518635.1:p.Leu570=
XR_930890.1:n.3276C>T
XR_930891.1:n.3276C>T
XR_930892.1:n.3176C>T
XR_930893.1:n.3173C>T
NM_001351295.1:c.3276C>T	NP_001338224.1:p.Leu1092=
NM_001351296.1:c.3210C>T	NP_001338225.1:p.Leu1070=
NM_001351297.1:c.3207C>T	NP_001338226.1:p.Leu1069=
NR_147094.1:n.3359C>T
XM_017018197.2:c.3279C>T	XP_016873686.1:p.Leu1093=
XM_017018199.1:c.3276C>T	XP_016873688.1:p.Leu1092=
XM_017018201.2:c.3279C>T	XP_016873690.1:p.Leu1093=
XM_017018202.1:c.1776C>T	XP_016873691.1:p.Leu592=
XM_017018204.1:c.1167C>T	XP_016873693.1:p.Leu389=
XM_024448668.1:c.1578C>T	XP_024304436.1:p.Leu526=
XR_001747945.2:n.3351C>T
XR_001747946.2:n.3282C>T
XR_002957189.1:n.3431C>T
NM_000352.6:c.3210C>T MANE Select	NP_000343.2:p.Leu1070=
NM_001287174.2:c.3213C>T	NP_001274103.1:p.Leu1071=
NM_001351295.2:c.3276C>T	NP_001338224.1:p.Leu1092=
NM_001351296.2:c.3210C>T	NP_001338225.1:p.Leu1070=
NM_001351297.2:c.3207C>T	NP_001338226.1:p.Leu1069=
NR_147094.2:n.3359C>T
NM_001287174.3:c.3213C>T	NP_001274103.1:p.Leu1071=