Canonical Allele Identifier: CA379802943

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406769-G-A
• MyVariant Identifiers: chr11:g.17428316G>A (hg19) ; chr11:g.17406769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406769G>A , CM000673.2:g.17406769G>A	GRCh38
NC_000011.9:g.17428316G>A , CM000673.1:g.17428316G>A	GRCh37
NC_000011.8:g.17384892G>A	NCBI36
NG_008867.1:g.75134C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2751C>T
ENST00000529967.6:n.1521C>T
ENST00000532220.2:n.914C>T
ENST00000642611.2:n.3251C>T
ENST00000645004.2:n.681C>T
ENST00000682051.1:n.3198C>T
ENST00000682110.1:n.3251C>T
ENST00000682140.1:c.3179C>T	ENSP00000507829.1:p.Thr1060Ile
ENST00000682185.1:n.4487C>T
ENST00000682204.1:c.*1320C>T	ENSP00000507094.1:n.*1320C>T
ENST00000682215.1:n.3248C>T
ENST00000682288.1:c.*1613C>T	ENSP00000507506.1:n.*1613C>T
ENST00000682442.1:n.3471C>T
ENST00000682528.1:n.3328C>T
ENST00000682673.1:n.3195C>T
ENST00000682805.1:n.3248C>T
ENST00000682965.1:c.3179C>T	ENSP00000508229.1:p.Thr1060Ile
ENST00000683093.1:n.3350C>T
ENST00000683136.1:c.3179C>T	ENSP00000507768.1:p.Thr1060Ile
ENST00000683153.1:n.3407C>T
ENST00000683365.1:n.3353C>T
ENST00000683377.1:n.3251C>T
ENST00000683456.1:c.*319C>T	ENSP00000508318.1:n.*319C>T
ENST00000683522.1:n.3251C>T
ENST00000683562.1:c.*1351C>T	ENSP00000508265.1:n.*1351C>T
ENST00000683693.1:n.3328C>T
ENST00000683725.1:c.3182C>T	ENSP00000507496.1:p.Thr1061Ile
ENST00000684010.1:n.3246C>T
ENST00000684157.1:n.3251C>T
ENST00000684253.1:n.3154C>T
ENST00000684288.1:c.*1354C>T	ENSP00000507143.1:n.*1354C>T
ENST00000684313.1:n.2683C>T
ENST00000684332.1:n.3324C>T
ENST00000684371.1:n.3357C>T
ENST00000684404.1:n.3294C>T
ENST00000684442.1:n.3251C>T
ENST00000684555.1:c.*1394C>T	ENSP00000507705.1:n.*1394C>T
ENST00000684571.1:c.3023C>T	ENSP00000506935.1:p.Thr1008Ile
ENST00000684593.1:c.*2887C>T	ENSP00000507005.1:n.*2887C>T
ENST00000684711.1:c.*1578C>T	ENSP00000506841.1:n.*1578C>T
ENST00000302539.9:c.3185C>T	ENSP00000303960.4:p.Thr1062Ile
ENST00000389817.8:c.3182C>T MANE Select	ENSP00000374467.4:p.Thr1061Ile
ENST00000642271.1:c.3179C>T	ENSP00000493749.1:p.Thr1060Ile
ENST00000642579.1:c.1266C>T
ENST00000642611.1:n.3136C>T
ENST00000642902.1:c.2964C>T
ENST00000643260.1:c.3182C>T	ENSP00000494450.1:p.Thr1061Ile
ENST00000643562.1:c.*1158C>T	ENSP00000496124.1:n.*1158C>T
ENST00000643925.1:c.1306C>T
ENST00000644447.1:c.1538C>T	ENSP00000496282.1:p.Thr513Ile
ENST00000644484.1:c.*1437C>T	ENSP00000493558.1:n.*1437C>T
ENST00000644542.1:c.*2986C>T	ENSP00000495532.1:n.*2986C>T
ENST00000644675.1:c.*1354C>T	ENSP00000494567.1:n.*1354C>T
ENST00000644757.1:c.*1467C>T	ENSP00000495085.1:n.*1467C>T
ENST00000644772.1:c.3248C>T	ENSP00000494321.1:p.Thr1083Ile
ENST00000645004.1:n.321C>T
ENST00000645076.1:c.2381C>T
ENST00000645417.1:c.348C>T
ENST00000645744.1:c.*1446C>T	ENSP00000494564.1:n.*1446C>T
ENST00000645760.1:c.3457C>T
ENST00000645884.1:c.*319C>T	ENSP00000495516.1:n.*319C>T
ENST00000646003.1:c.*1138C>T	ENSP00000495259.1:n.*1138C>T
ENST00000646207.1:c.*1649C>T	ENSP00000495025.1:n.*1649C>T
ENST00000646276.1:c.*1455C>T	ENSP00000496070.1:n.*1455C>T
ENST00000646592.1:c.2488C>T
ENST00000646902.1:c.3179C>T	ENSP00000494101.1:p.Thr1060Ile
ENST00000646993.1:c.*1578C>T	ENSP00000493720.1:n.*1578C>T
ENST00000647013.1:c.3188C>T	ENSP00000496741.1:n.3188C>T
ENST00000647015.1:c.2933C>T	ENSP00000495389.1:p.Thr978Ile
ENST00000647086.1:c.*2912C>T	ENSP00000493677.1:n.*2912C>T
ENST00000647158.1:c.*1323C>T	ENSP00000495744.1:n.*1323C>T
ENST00000302539.8:c.3185C>T	ENSP00000303960.4:p.Thr1062Ile
ENST00000389817.7:c.3182C>T	ENSP00000374467.3:p.Thr1061Ile
ENST00000524561.1:n.314C>T
ENST00000526921.5:n.866C>T
ENST00000527905.5:c.*58C>T	ENSP00000431653.1:n.*58C>T
NM_000352.4:c.3182C>T	NP_000343.2:p.Thr1061Ile
NM_001287174.1:c.3185C>T	NP_001274103.1:p.Thr1062Ile
XM_011520331.1:c.3182C>T	XP_011518633.1:p.Thr1061Ile
XM_011520332.1:c.3185C>T	XP_011518634.1:p.Thr1062Ile
XM_011520333.1:c.1682C>T	XP_011518635.1:p.Thr561Ile
XR_930890.1:n.3248C>T
XR_930891.1:n.3248C>T
XR_930892.1:n.3148C>T
XR_930893.1:n.3145C>T
NM_001351295.1:c.3248C>T	NP_001338224.1:p.Thr1083Ile
NM_001351296.1:c.3182C>T	NP_001338225.1:p.Thr1061Ile
NM_001351297.1:c.3179C>T	NP_001338226.1:p.Thr1060Ile
NR_147094.1:n.3331C>T
XM_017018197.2:c.3251C>T	XP_016873686.1:p.Thr1084Ile
XM_017018199.1:c.3248C>T	XP_016873688.1:p.Thr1083Ile
XM_017018201.2:c.3251C>T	XP_016873690.1:p.Thr1084Ile
XM_017018202.1:c.1748C>T	XP_016873691.1:p.Thr583Ile
XM_017018204.1:c.1139C>T	XP_016873693.1:p.Thr380Ile
XM_024448668.1:c.1550C>T	XP_024304436.1:p.Thr517Ile
XR_001747945.2:n.3323C>T
XR_001747946.2:n.3254C>T
XR_002957189.1:n.3403C>T
NM_000352.6:c.3182C>T MANE Select	NP_000343.2:p.Thr1061Ile
NM_001287174.2:c.3185C>T	NP_001274103.1:p.Thr1062Ile
NM_001351295.2:c.3248C>T	NP_001338224.1:p.Thr1083Ile
NM_001351296.2:c.3182C>T	NP_001338225.1:p.Thr1061Ile
NM_001351297.2:c.3179C>T	NP_001338226.1:p.Thr1060Ile
NR_147094.2:n.3331C>T
NM_001287174.3:c.3185C>T	NP_001274103.1:p.Thr1062Ile