Canonical Allele Identifier: CA379801671

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428235G>T (hg19) ; chr11:g.17406688G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406688G>T , CM000673.2:g.17406688G>T	GRCh38
NC_000011.9:g.17428235G>T , CM000673.1:g.17428235G>T	GRCh37
NC_000011.8:g.17384811G>T	NCBI36
NG_008867.1:g.75215C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2832C>A
ENST00000529967.6:n.1602C>A
ENST00000532220.2:n.995C>A
ENST00000642611.2:n.3332C>A
ENST00000645004.2:n.762C>A
ENST00000682051.1:n.3279C>A
ENST00000682110.1:n.3332C>A
ENST00000682140.1:c.3260C>A	ENSP00000507829.1:p.Thr1087Lys
ENST00000682185.1:n.4568C>A
ENST00000682204.1:c.*1401C>A	ENSP00000507094.1:n.*1401C>A
ENST00000682215.1:n.3329C>A
ENST00000682288.1:c.*1694C>A	ENSP00000507506.1:n.*1694C>A
ENST00000682442.1:n.3552C>A
ENST00000682528.1:n.3409C>A
ENST00000682673.1:n.3276C>A
ENST00000682805.1:n.3329C>A
ENST00000682965.1:c.3260C>A	ENSP00000508229.1:p.Thr1087Lys
ENST00000683093.1:n.3431C>A
ENST00000683136.1:c.3260C>A	ENSP00000507768.1:p.Thr1087Lys
ENST00000683153.1:n.3488C>A
ENST00000683365.1:n.3434C>A
ENST00000683377.1:n.3332C>A
ENST00000683456.1:c.*400C>A	ENSP00000508318.1:n.*400C>A
ENST00000683522.1:n.3332C>A
ENST00000683562.1:c.*1432C>A	ENSP00000508265.1:n.*1432C>A
ENST00000683693.1:n.3409C>A
ENST00000683725.1:c.3263C>A	ENSP00000507496.1:p.Thr1088Lys
ENST00000684010.1:n.3327C>A
ENST00000684157.1:n.3332C>A
ENST00000684253.1:n.3235C>A
ENST00000684288.1:c.*1435C>A	ENSP00000507143.1:n.*1435C>A
ENST00000684313.1:n.2764C>A
ENST00000684332.1:n.3405C>A
ENST00000684371.1:n.3438C>A
ENST00000684404.1:n.3375C>A
ENST00000684442.1:n.3332C>A
ENST00000684555.1:c.*1475C>A	ENSP00000507705.1:n.*1475C>A
ENST00000684571.1:c.3104C>A	ENSP00000506935.1:p.Thr1035Lys
ENST00000684593.1:c.*2968C>A	ENSP00000507005.1:n.*2968C>A
ENST00000684711.1:c.*1659C>A	ENSP00000506841.1:n.*1659C>A
ENST00000302539.9:c.3266C>A	ENSP00000303960.4:p.Thr1089Lys
ENST00000389817.8:c.3263C>A MANE Select	ENSP00000374467.4:p.Thr1088Lys
ENST00000642271.1:c.3260C>A	ENSP00000493749.1:p.Thr1087Lys
ENST00000642579.1:c.1347C>A
ENST00000642611.1:n.3217C>A
ENST00000642902.1:c.3045C>A
ENST00000643260.1:c.3263C>A	ENSP00000494450.1:p.Thr1088Lys
ENST00000643562.1:c.*1239C>A	ENSP00000496124.1:n.*1239C>A
ENST00000643925.1:c.1387C>A
ENST00000644447.1:c.1619C>A	ENSP00000496282.1:p.Thr540Lys
ENST00000644484.1:c.*1518C>A	ENSP00000493558.1:n.*1518C>A
ENST00000644542.1:c.*3067C>A	ENSP00000495532.1:n.*3067C>A
ENST00000644675.1:c.*1435C>A	ENSP00000494567.1:n.*1435C>A
ENST00000644757.1:c.*1548C>A	ENSP00000495085.1:n.*1548C>A
ENST00000644772.1:c.3329C>A	ENSP00000494321.1:p.Thr1110Lys
ENST00000645004.1:n.402C>A
ENST00000645076.1:c.2462C>A
ENST00000645417.1:c.429C>A
ENST00000645744.1:c.*1527C>A	ENSP00000494564.1:n.*1527C>A
ENST00000645760.1:c.3538C>A
ENST00000645884.1:c.*400C>A	ENSP00000495516.1:n.*400C>A
ENST00000646003.1:c.*1219C>A	ENSP00000495259.1:n.*1219C>A
ENST00000646207.1:c.*1730C>A	ENSP00000495025.1:n.*1730C>A
ENST00000646276.1:c.*1536C>A	ENSP00000496070.1:n.*1536C>A
ENST00000646592.1:c.2569C>A
ENST00000646902.1:c.3260C>A	ENSP00000494101.1:p.Thr1087Lys
ENST00000646993.1:c.*1659C>A	ENSP00000493720.1:n.*1659C>A
ENST00000647013.1:c.3269C>A	ENSP00000496741.1:n.3269C>A
ENST00000647015.1:c.3014C>A	ENSP00000495389.1:p.Thr1005Lys
ENST00000647086.1:c.*2993C>A	ENSP00000493677.1:n.*2993C>A
ENST00000647158.1:c.*1404C>A	ENSP00000495744.1:n.*1404C>A
ENST00000302539.8:c.3266C>A	ENSP00000303960.4:p.Thr1089Lys
ENST00000389817.7:c.3263C>A	ENSP00000374467.3:p.Thr1088Lys
ENST00000524561.1:n.395C>A
ENST00000526921.5:n.947C>A
ENST00000527905.5:c.*139C>A	ENSP00000431653.1:n.*139C>A
NM_000352.4:c.3263C>A	NP_000343.2:p.Thr1088Lys
NM_001287174.1:c.3266C>A	NP_001274103.1:p.Thr1089Lys
XM_011520331.1:c.3263C>A	XP_011518633.1:p.Thr1088Lys
XM_011520332.1:c.3266C>A	XP_011518634.1:p.Thr1089Lys
XM_011520333.1:c.1763C>A	XP_011518635.1:p.Thr588Lys
XR_930890.1:n.3329C>A
XR_930891.1:n.3329C>A
XR_930892.1:n.3229C>A
XR_930893.1:n.3226C>A
NM_001351295.1:c.3329C>A	NP_001338224.1:p.Thr1110Lys
NM_001351296.1:c.3263C>A	NP_001338225.1:p.Thr1088Lys
NM_001351297.1:c.3260C>A	NP_001338226.1:p.Thr1087Lys
NR_147094.1:n.3412C>A
XM_017018197.2:c.3332C>A	XP_016873686.1:p.Thr1111Lys
XM_017018199.1:c.3329C>A	XP_016873688.1:p.Thr1110Lys
XM_017018201.2:c.3332C>A	XP_016873690.1:p.Thr1111Lys
XM_017018202.1:c.1829C>A	XP_016873691.1:p.Thr610Lys
XM_017018204.1:c.1220C>A	XP_016873693.1:p.Thr407Lys
XM_024448668.1:c.1631C>A	XP_024304436.1:p.Thr544Lys
XR_001747945.2:n.3404C>A
XR_001747946.2:n.3335C>A
XR_002957189.1:n.3484C>A
NM_000352.6:c.3263C>A MANE Select	NP_000343.2:p.Thr1088Lys
NM_001287174.2:c.3266C>A	NP_001274103.1:p.Thr1089Lys
NM_001351295.2:c.3329C>A	NP_001338224.1:p.Thr1110Lys
NM_001351296.2:c.3263C>A	NP_001338225.1:p.Thr1088Lys
NM_001351297.2:c.3260C>A	NP_001338226.1:p.Thr1087Lys
NR_147094.2:n.3412C>A
NM_001287174.3:c.3266C>A	NP_001274103.1:p.Thr1089Lys