Canonical Allele Identifier: CA473515812

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428246A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406699A>T , CM000673.2:g.17406699A>T	GRCh38
NC_000011.9:g.17428246A>T , CM000673.1:g.17428246A>T	GRCh37
NC_000011.8:g.17384822A>T	NCBI36
NG_008867.1:g.75204T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2821T>A
ENST00000529967.6:n.1591T>A
ENST00000532220.2:n.984T>A
ENST00000642611.2:n.3321T>A
ENST00000645004.2:n.751T>A
ENST00000682051.1:n.3268T>A
ENST00000682110.1:n.3321T>A
ENST00000682140.1:c.3249T>A	ENSP00000507829.1:p.Thr1083=
ENST00000682185.1:n.4557T>A
ENST00000682204.1:c.*1390T>A	ENSP00000507094.1:n.*1390T>A
ENST00000682215.1:n.3318T>A
ENST00000682288.1:c.*1683T>A	ENSP00000507506.1:n.*1683T>A
ENST00000682442.1:n.3541T>A
ENST00000682528.1:n.3398T>A
ENST00000682673.1:n.3265T>A
ENST00000682805.1:n.3318T>A
ENST00000682965.1:c.3249T>A	ENSP00000508229.1:p.Thr1083=
ENST00000683093.1:n.3420T>A
ENST00000683136.1:c.3249T>A	ENSP00000507768.1:p.Thr1083=
ENST00000683153.1:n.3477T>A
ENST00000683365.1:n.3423T>A
ENST00000683377.1:n.3321T>A
ENST00000683456.1:c.*389T>A	ENSP00000508318.1:n.*389T>A
ENST00000683522.1:n.3321T>A
ENST00000683562.1:c.*1421T>A	ENSP00000508265.1:n.*1421T>A
ENST00000683693.1:n.3398T>A
ENST00000683725.1:c.3252T>A	ENSP00000507496.1:p.Thr1084=
ENST00000684010.1:n.3316T>A
ENST00000684157.1:n.3321T>A
ENST00000684253.1:n.3224T>A
ENST00000684288.1:c.*1424T>A	ENSP00000507143.1:n.*1424T>A
ENST00000684313.1:n.2753T>A
ENST00000684332.1:n.3394T>A
ENST00000684371.1:n.3427T>A
ENST00000684404.1:n.3364T>A
ENST00000684442.1:n.3321T>A
ENST00000684555.1:c.*1464T>A	ENSP00000507705.1:n.*1464T>A
ENST00000684571.1:c.3093T>A	ENSP00000506935.1:p.Thr1031=
ENST00000684593.1:c.*2957T>A	ENSP00000507005.1:n.*2957T>A
ENST00000684711.1:c.*1648T>A	ENSP00000506841.1:n.*1648T>A
ENST00000302539.9:c.3255T>A	ENSP00000303960.4:p.Thr1085=
ENST00000389817.8:c.3252T>A MANE Select	ENSP00000374467.4:p.Thr1084=
ENST00000642271.1:c.3249T>A	ENSP00000493749.1:p.Thr1083=
ENST00000642579.1:c.1336T>A
ENST00000642611.1:n.3206T>A
ENST00000642902.1:c.3034T>A
ENST00000643260.1:c.3252T>A	ENSP00000494450.1:p.Thr1084=
ENST00000643562.1:c.*1228T>A	ENSP00000496124.1:n.*1228T>A
ENST00000643925.1:c.1376T>A
ENST00000644447.1:c.1608T>A	ENSP00000496282.1:p.Thr536=
ENST00000644484.1:c.*1507T>A	ENSP00000493558.1:n.*1507T>A
ENST00000644542.1:c.*3056T>A	ENSP00000495532.1:n.*3056T>A
ENST00000644675.1:c.*1424T>A	ENSP00000494567.1:n.*1424T>A
ENST00000644757.1:c.*1537T>A	ENSP00000495085.1:n.*1537T>A
ENST00000644772.1:c.3318T>A	ENSP00000494321.1:p.Thr1106=
ENST00000645004.1:n.391T>A
ENST00000645076.1:c.2451T>A
ENST00000645417.1:c.418T>A
ENST00000645744.1:c.*1516T>A	ENSP00000494564.1:n.*1516T>A
ENST00000645760.1:c.3527T>A
ENST00000645884.1:c.*389T>A	ENSP00000495516.1:n.*389T>A
ENST00000646003.1:c.*1208T>A	ENSP00000495259.1:n.*1208T>A
ENST00000646207.1:c.*1719T>A	ENSP00000495025.1:n.*1719T>A
ENST00000646276.1:c.*1525T>A	ENSP00000496070.1:n.*1525T>A
ENST00000646592.1:c.2558T>A
ENST00000646902.1:c.3249T>A	ENSP00000494101.1:p.Thr1083=
ENST00000646993.1:c.*1648T>A	ENSP00000493720.1:n.*1648T>A
ENST00000647013.1:c.3258T>A	ENSP00000496741.1:n.3258T>A
ENST00000647015.1:c.3003T>A	ENSP00000495389.1:p.Thr1001=
ENST00000647086.1:c.*2982T>A	ENSP00000493677.1:n.*2982T>A
ENST00000647158.1:c.*1393T>A	ENSP00000495744.1:n.*1393T>A
ENST00000302539.8:c.3255T>A	ENSP00000303960.4:p.Thr1085=
ENST00000389817.7:c.3252T>A	ENSP00000374467.3:p.Thr1084=
ENST00000524561.1:n.384T>A
ENST00000526921.5:n.936T>A
ENST00000527905.5:c.*128T>A	ENSP00000431653.1:n.*128T>A
NM_000352.4:c.3252T>A	NP_000343.2:p.Thr1084=
NM_001287174.1:c.3255T>A	NP_001274103.1:p.Thr1085=
XM_011520331.1:c.3252T>A	XP_011518633.1:p.Thr1084=
XM_011520332.1:c.3255T>A	XP_011518634.1:p.Thr1085=
XM_011520333.1:c.1752T>A	XP_011518635.1:p.Thr584=
XR_930890.1:n.3318T>A
XR_930891.1:n.3318T>A
XR_930892.1:n.3218T>A
XR_930893.1:n.3215T>A
NM_001351295.1:c.3318T>A	NP_001338224.1:p.Thr1106=
NM_001351296.1:c.3252T>A	NP_001338225.1:p.Thr1084=
NM_001351297.1:c.3249T>A	NP_001338226.1:p.Thr1083=
NR_147094.1:n.3401T>A
XM_017018197.2:c.3321T>A	XP_016873686.1:p.Thr1107=
XM_017018199.1:c.3318T>A	XP_016873688.1:p.Thr1106=
XM_017018201.2:c.3321T>A	XP_016873690.1:p.Thr1107=
XM_017018202.1:c.1818T>A	XP_016873691.1:p.Thr606=
XM_017018204.1:c.1209T>A	XP_016873693.1:p.Thr403=
XM_024448668.1:c.1620T>A	XP_024304436.1:p.Thr540=
XR_001747945.2:n.3393T>A
XR_001747946.2:n.3324T>A
XR_002957189.1:n.3473T>A
NM_000352.6:c.3252T>A MANE Select	NP_000343.2:p.Thr1084=
NM_001287174.2:c.3255T>A	NP_001274103.1:p.Thr1085=
NM_001351295.2:c.3318T>A	NP_001338224.1:p.Thr1106=
NM_001351296.2:c.3252T>A	NP_001338225.1:p.Thr1084=
NM_001351297.2:c.3249T>A	NP_001338226.1:p.Thr1083=
NR_147094.2:n.3401T>A
NM_001287174.3:c.3255T>A	NP_001274103.1:p.Thr1085=