Canonical Allele Identifier: CA379802835

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428283C>A (hg19) ; chr11:g.17406736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406736C>A , CM000673.2:g.17406736C>A	GRCh38
NC_000011.9:g.17428283C>A , CM000673.1:g.17428283C>A	GRCh37
NC_000011.8:g.17384859C>A	NCBI36
NG_008867.1:g.75167G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2784G>T
ENST00000529967.6:n.1554G>T
ENST00000532220.2:n.947G>T
ENST00000642611.2:n.3284G>T
ENST00000645004.2:n.714G>T
ENST00000682051.1:n.3231G>T
ENST00000682110.1:n.3284G>T
ENST00000682140.1:c.3212G>T	ENSP00000507829.1:p.Ser1071Ile
ENST00000682185.1:n.4520G>T
ENST00000682204.1:c.*1353G>T	ENSP00000507094.1:n.*1353G>T
ENST00000682215.1:n.3281G>T
ENST00000682288.1:c.*1646G>T	ENSP00000507506.1:n.*1646G>T
ENST00000682442.1:n.3504G>T
ENST00000682528.1:n.3361G>T
ENST00000682673.1:n.3228G>T
ENST00000682805.1:n.3281G>T
ENST00000682965.1:c.3212G>T	ENSP00000508229.1:p.Ser1071Ile
ENST00000683093.1:n.3383G>T
ENST00000683136.1:c.3212G>T	ENSP00000507768.1:p.Ser1071Ile
ENST00000683153.1:n.3440G>T
ENST00000683365.1:n.3386G>T
ENST00000683377.1:n.3284G>T
ENST00000683456.1:c.*352G>T	ENSP00000508318.1:n.*352G>T
ENST00000683522.1:n.3284G>T
ENST00000683562.1:c.*1384G>T	ENSP00000508265.1:n.*1384G>T
ENST00000683693.1:n.3361G>T
ENST00000683725.1:c.3215G>T	ENSP00000507496.1:p.Ser1072Ile
ENST00000684010.1:n.3279G>T
ENST00000684157.1:n.3284G>T
ENST00000684253.1:n.3187G>T
ENST00000684288.1:c.*1387G>T	ENSP00000507143.1:n.*1387G>T
ENST00000684313.1:n.2716G>T
ENST00000684332.1:n.3357G>T
ENST00000684371.1:n.3390G>T
ENST00000684404.1:n.3327G>T
ENST00000684442.1:n.3284G>T
ENST00000684555.1:c.*1427G>T	ENSP00000507705.1:n.*1427G>T
ENST00000684571.1:c.3056G>T	ENSP00000506935.1:p.Ser1019Ile
ENST00000684593.1:c.*2920G>T	ENSP00000507005.1:n.*2920G>T
ENST00000684711.1:c.*1611G>T	ENSP00000506841.1:n.*1611G>T
ENST00000302539.9:c.3218G>T	ENSP00000303960.4:p.Ser1073Ile
ENST00000389817.8:c.3215G>T MANE Select	ENSP00000374467.4:p.Ser1072Ile
ENST00000642271.1:c.3212G>T	ENSP00000493749.1:p.Ser1071Ile
ENST00000642579.1:c.1299G>T
ENST00000642611.1:n.3169G>T
ENST00000642902.1:c.2997G>T
ENST00000643260.1:c.3215G>T	ENSP00000494450.1:p.Ser1072Ile
ENST00000643562.1:c.*1191G>T	ENSP00000496124.1:n.*1191G>T
ENST00000643925.1:c.1339G>T
ENST00000644447.1:c.1571G>T	ENSP00000496282.1:p.Ser524Ile
ENST00000644484.1:c.*1470G>T	ENSP00000493558.1:n.*1470G>T
ENST00000644542.1:c.*3019G>T	ENSP00000495532.1:n.*3019G>T
ENST00000644675.1:c.*1387G>T	ENSP00000494567.1:n.*1387G>T
ENST00000644757.1:c.*1500G>T	ENSP00000495085.1:n.*1500G>T
ENST00000644772.1:c.3281G>T	ENSP00000494321.1:p.Ser1094Ile
ENST00000645004.1:n.354G>T
ENST00000645076.1:c.2414G>T
ENST00000645417.1:c.381G>T
ENST00000645744.1:c.*1479G>T	ENSP00000494564.1:n.*1479G>T
ENST00000645760.1:c.3490G>T
ENST00000645884.1:c.*352G>T	ENSP00000495516.1:n.*352G>T
ENST00000646003.1:c.*1171G>T	ENSP00000495259.1:n.*1171G>T
ENST00000646207.1:c.*1682G>T	ENSP00000495025.1:n.*1682G>T
ENST00000646276.1:c.*1488G>T	ENSP00000496070.1:n.*1488G>T
ENST00000646592.1:c.2521G>T
ENST00000646902.1:c.3212G>T	ENSP00000494101.1:p.Ser1071Ile
ENST00000646993.1:c.*1611G>T	ENSP00000493720.1:n.*1611G>T
ENST00000647013.1:c.3221G>T	ENSP00000496741.1:n.3221G>T
ENST00000647015.1:c.2966G>T	ENSP00000495389.1:p.Ser989Ile
ENST00000647086.1:c.*2945G>T	ENSP00000493677.1:n.*2945G>T
ENST00000647158.1:c.*1356G>T	ENSP00000495744.1:n.*1356G>T
ENST00000302539.8:c.3218G>T	ENSP00000303960.4:p.Ser1073Ile
ENST00000389817.7:c.3215G>T	ENSP00000374467.3:p.Ser1072Ile
ENST00000524561.1:n.347G>T
ENST00000526921.5:n.899G>T
ENST00000527905.5:c.*91G>T	ENSP00000431653.1:n.*91G>T
NM_000352.4:c.3215G>T	NP_000343.2:p.Ser1072Ile
NM_001287174.1:c.3218G>T	NP_001274103.1:p.Ser1073Ile
XM_011520331.1:c.3215G>T	XP_011518633.1:p.Ser1072Ile
XM_011520332.1:c.3218G>T	XP_011518634.1:p.Ser1073Ile
XM_011520333.1:c.1715G>T	XP_011518635.1:p.Ser572Ile
XR_930890.1:n.3281G>T
XR_930891.1:n.3281G>T
XR_930892.1:n.3181G>T
XR_930893.1:n.3178G>T
NM_001351295.1:c.3281G>T	NP_001338224.1:p.Ser1094Ile
NM_001351296.1:c.3215G>T	NP_001338225.1:p.Ser1072Ile
NM_001351297.1:c.3212G>T	NP_001338226.1:p.Ser1071Ile
NR_147094.1:n.3364G>T
XM_017018197.2:c.3284G>T	XP_016873686.1:p.Ser1095Ile
XM_017018199.1:c.3281G>T	XP_016873688.1:p.Ser1094Ile
XM_017018201.2:c.3284G>T	XP_016873690.1:p.Ser1095Ile
XM_017018202.1:c.1781G>T	XP_016873691.1:p.Ser594Ile
XM_017018204.1:c.1172G>T	XP_016873693.1:p.Ser391Ile
XM_024448668.1:c.1583G>T	XP_024304436.1:p.Ser528Ile
XR_001747945.2:n.3356G>T
XR_001747946.2:n.3287G>T
XR_002957189.1:n.3436G>T
NM_000352.6:c.3215G>T MANE Select	NP_000343.2:p.Ser1072Ile
NM_001287174.2:c.3218G>T	NP_001274103.1:p.Ser1073Ile
NM_001351295.2:c.3281G>T	NP_001338224.1:p.Ser1094Ile
NM_001351296.2:c.3215G>T	NP_001338225.1:p.Ser1072Ile
NM_001351297.2:c.3212G>T	NP_001338226.1:p.Ser1071Ile
NR_147094.2:n.3364G>T
NM_001287174.3:c.3218G>T	NP_001274103.1:p.Ser1073Ile