Canonical Allele Identifier: CA379799632

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426207A>G (hg19) ; chr11:g.17404660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404660A>G , CM000673.2:g.17404660A>G	GRCh38
NC_000011.9:g.17426207A>G , CM000673.1:g.17426207A>G	GRCh37
NC_000011.8:g.17382783A>G	NCBI36
NG_008867.1:g.77243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2978T>C
ENST00000529967.6:n.1748T>C
ENST00000532220.2:n.1141T>C
ENST00000642611.2:n.3478T>C
ENST00000645004.2:n.908T>C
ENST00000682051.1:n.3425T>C
ENST00000682110.1:n.3478T>C
ENST00000682140.1:c.3406T>C	ENSP00000507829.1:p.Ser1136Pro
ENST00000682185.1:n.4714T>C
ENST00000682204.1:c.*1547T>C	ENSP00000507094.1:n.*1547T>C
ENST00000682215.1:n.3475T>C
ENST00000682288.1:c.*1840T>C	ENSP00000507506.1:n.*1840T>C
ENST00000682442.1:n.3698T>C
ENST00000682528.1:n.3555T>C
ENST00000682673.1:n.3422T>C
ENST00000682805.1:n.3475T>C
ENST00000682965.1:c.3396+834T>C	ENSP00000508229.1:n.3396+834T>C
ENST00000683093.1:n.3577T>C
ENST00000683136.1:c.3406T>C	ENSP00000507768.1:p.Ser1136Pro
ENST00000683153.1:n.3634T>C
ENST00000683365.1:n.3580T>C
ENST00000683377.1:n.3478T>C
ENST00000683456.1:c.*546T>C	ENSP00000508318.1:n.*546T>C
ENST00000683522.1:n.3478T>C
ENST00000683562.1:c.*1578T>C	ENSP00000508265.1:n.*1578T>C
ENST00000683693.1:n.3555T>C
ENST00000683725.1:c.3409T>C	ENSP00000507496.1:p.Ser1137Pro
ENST00000684010.1:n.3473T>C
ENST00000684157.1:n.3478T>C
ENST00000684253.1:n.3381T>C
ENST00000684288.1:c.*1581T>C	ENSP00000507143.1:n.*1581T>C
ENST00000684313.1:n.2910T>C
ENST00000684332.1:n.3551T>C
ENST00000684371.1:n.3584T>C
ENST00000684404.1:n.3521T>C
ENST00000684442.1:n.3478T>C
ENST00000684555.1:c.*1621T>C	ENSP00000507705.1:n.*1621T>C
ENST00000684571.1:c.3250T>C	ENSP00000506935.1:p.Ser1084Pro
ENST00000684593.1:c.*3114T>C	ENSP00000507005.1:n.*3114T>C
ENST00000684711.1:c.*1805T>C	ENSP00000506841.1:n.*1805T>C
ENST00000302539.9:c.3412T>C	ENSP00000303960.4:p.Ser1138Pro
ENST00000389817.8:c.3409T>C MANE Select	ENSP00000374467.4:p.Ser1137Pro
ENST00000642271.1:c.3406T>C	ENSP00000493749.1:p.Ser1136Pro
ENST00000642579.1:c.1493T>C
ENST00000642611.1:n.3363T>C
ENST00000642902.1:c.3191T>C
ENST00000643260.1:c.3409T>C	ENSP00000494450.1:p.Ser1137Pro
ENST00000643562.1:c.*1385T>C	ENSP00000496124.1:n.*1385T>C
ENST00000643925.1:c.1533T>C
ENST00000644447.1:c.1765T>C	ENSP00000496282.1:p.Ser589Pro
ENST00000644484.1:c.*1664T>C	ENSP00000493558.1:n.*1664T>C
ENST00000644675.1:c.*1581T>C	ENSP00000494567.1:n.*1581T>C
ENST00000644757.1:c.*1694T>C	ENSP00000495085.1:n.*1694T>C
ENST00000644772.1:c.3475T>C	ENSP00000494321.1:p.Ser1159Pro
ENST00000645004.1:n.548T>C
ENST00000645076.1:c.2608T>C
ENST00000645417.1:c.575T>C
ENST00000645744.1:c.*1673T>C	ENSP00000494564.1:n.*1673T>C
ENST00000645760.1:c.3684T>C
ENST00000645884.1:c.*546T>C	ENSP00000495516.1:n.*546T>C
ENST00000646003.1:c.*1365T>C	ENSP00000495259.1:n.*1365T>C
ENST00000646207.1:c.*1876T>C	ENSP00000495025.1:n.*1876T>C
ENST00000646276.1:c.*1682T>C	ENSP00000496070.1:n.*1682T>C
ENST00000646592.1:c.2715T>C
ENST00000646902.1:c.3406T>C	ENSP00000494101.1:p.Ser1136Pro
ENST00000646993.1:c.*1805T>C	ENSP00000493720.1:n.*1805T>C
ENST00000647013.1:c.3415T>C	ENSP00000496741.1:n.3415T>C
ENST00000647015.1:c.3160T>C	ENSP00000495389.1:p.Ser1054Pro
ENST00000647086.1:c.*3139T>C	ENSP00000493677.1:n.*3139T>C
ENST00000647158.1:c.*1550T>C	ENSP00000495744.1:n.*1550T>C
ENST00000302539.8:c.3412T>C	ENSP00000303960.4:p.Ser1138Pro
ENST00000389817.7:c.3409T>C	ENSP00000374467.3:p.Ser1137Pro
ENST00000524561.1:n.541T>C
ENST00000527905.5:c.*285T>C	ENSP00000431653.1:n.*285T>C
NM_000352.4:c.3409T>C	NP_000343.2:p.Ser1137Pro
NM_001287174.1:c.3412T>C	NP_001274103.1:p.Ser1138Pro
XM_011520331.1:c.3409T>C	XP_011518633.1:p.Ser1137Pro
XM_011520332.1:c.3412T>C	XP_011518634.1:p.Ser1138Pro
XM_011520333.1:c.1909T>C	XP_011518635.1:p.Ser637Pro
XR_930890.1:n.3475T>C
XR_930891.1:n.3476T>C
XR_930892.1:n.3375T>C
XR_930893.1:n.3372T>C
NM_001351295.1:c.3475T>C	NP_001338224.1:p.Ser1159Pro
NM_001351296.1:c.3409T>C	NP_001338225.1:p.Ser1137Pro
NM_001351297.1:c.3406T>C	NP_001338226.1:p.Ser1136Pro
NR_147094.1:n.3558T>C
XM_017018197.2:c.3478T>C	XP_016873686.1:p.Ser1160Pro
XM_017018199.1:c.3475T>C	XP_016873688.1:p.Ser1159Pro
XM_017018201.2:c.3478T>C	XP_016873690.1:p.Ser1160Pro
XM_017018202.1:c.1975T>C	XP_016873691.1:p.Ser659Pro
XM_017018204.1:c.1366T>C	XP_016873693.1:p.Ser456Pro
XM_024448668.1:c.1777T>C	XP_024304436.1:p.Ser593Pro
XR_001747945.2:n.3550T>C
XR_001747946.2:n.3481T>C
XR_002957189.1:n.3630T>C
NM_000352.6:c.3409T>C MANE Select	NP_000343.2:p.Ser1137Pro
NM_001287174.2:c.3412T>C	NP_001274103.1:p.Ser1138Pro
NM_001351295.2:c.3475T>C	NP_001338224.1:p.Ser1159Pro
NM_001351296.2:c.3409T>C	NP_001338225.1:p.Ser1137Pro
NM_001351297.2:c.3406T>C	NP_001338226.1:p.Ser1136Pro
NR_147094.2:n.3558T>C
NM_001287174.3:c.3412T>C	NP_001274103.1:p.Ser1138Pro