Canonical Allele Identifier: CA379799626

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426206G>A (hg19) ; chr11:g.17404659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404659G>A , CM000673.2:g.17404659G>A	GRCh38
NC_000011.9:g.17426206G>A , CM000673.1:g.17426206G>A	GRCh37
NC_000011.8:g.17382782G>A	NCBI36
NG_008867.1:g.77244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2979C>T
ENST00000529967.6:n.1749C>T
ENST00000532220.2:n.1142C>T
ENST00000642611.2:n.3479C>T
ENST00000645004.2:n.909C>T
ENST00000682051.1:n.3426C>T
ENST00000682110.1:n.3479C>T
ENST00000682140.1:c.3407C>T	ENSP00000507829.1:p.Ser1136Phe
ENST00000682185.1:n.4715C>T
ENST00000682204.1:c.*1548C>T	ENSP00000507094.1:n.*1548C>T
ENST00000682215.1:n.3476C>T
ENST00000682288.1:c.*1841C>T	ENSP00000507506.1:n.*1841C>T
ENST00000682442.1:n.3699C>T
ENST00000682528.1:n.3556C>T
ENST00000682673.1:n.3423C>T
ENST00000682805.1:n.3476C>T
ENST00000682965.1:c.3396+835C>T	ENSP00000508229.1:n.3396+835C>T
ENST00000683093.1:n.3578C>T
ENST00000683136.1:c.3407C>T	ENSP00000507768.1:p.Ser1136Phe
ENST00000683153.1:n.3635C>T
ENST00000683365.1:n.3581C>T
ENST00000683377.1:n.3479C>T
ENST00000683456.1:c.*547C>T	ENSP00000508318.1:n.*547C>T
ENST00000683522.1:n.3479C>T
ENST00000683562.1:c.*1579C>T	ENSP00000508265.1:n.*1579C>T
ENST00000683693.1:n.3556C>T
ENST00000683725.1:c.3410C>T	ENSP00000507496.1:p.Ser1137Phe
ENST00000684010.1:n.3474C>T
ENST00000684157.1:n.3479C>T
ENST00000684253.1:n.3382C>T
ENST00000684288.1:c.*1582C>T	ENSP00000507143.1:n.*1582C>T
ENST00000684313.1:n.2911C>T
ENST00000684332.1:n.3552C>T
ENST00000684371.1:n.3585C>T
ENST00000684404.1:n.3522C>T
ENST00000684442.1:n.3479C>T
ENST00000684555.1:c.*1622C>T	ENSP00000507705.1:n.*1622C>T
ENST00000684571.1:c.3251C>T	ENSP00000506935.1:p.Ser1084Phe
ENST00000684593.1:c.*3115C>T	ENSP00000507005.1:n.*3115C>T
ENST00000684711.1:c.*1806C>T	ENSP00000506841.1:n.*1806C>T
ENST00000302539.9:c.3413C>T	ENSP00000303960.4:p.Ser1138Phe
ENST00000389817.8:c.3410C>T MANE Select	ENSP00000374467.4:p.Ser1137Phe
ENST00000642271.1:c.3407C>T	ENSP00000493749.1:p.Ser1136Phe
ENST00000642579.1:c.1494C>T
ENST00000642611.1:n.3364C>T
ENST00000642902.1:c.3192C>T
ENST00000643260.1:c.3410C>T	ENSP00000494450.1:p.Ser1137Phe
ENST00000643562.1:c.*1386C>T	ENSP00000496124.1:n.*1386C>T
ENST00000643925.1:c.1534C>T
ENST00000644447.1:c.1766C>T	ENSP00000496282.1:p.Ser589Phe
ENST00000644484.1:c.*1665C>T	ENSP00000493558.1:n.*1665C>T
ENST00000644675.1:c.*1582C>T	ENSP00000494567.1:n.*1582C>T
ENST00000644757.1:c.*1695C>T	ENSP00000495085.1:n.*1695C>T
ENST00000644772.1:c.3476C>T	ENSP00000494321.1:p.Ser1159Phe
ENST00000645004.1:n.549C>T
ENST00000645076.1:c.2609C>T
ENST00000645417.1:c.576C>T
ENST00000645744.1:c.*1674C>T	ENSP00000494564.1:n.*1674C>T
ENST00000645760.1:c.3685C>T
ENST00000645884.1:c.*547C>T	ENSP00000495516.1:n.*547C>T
ENST00000646003.1:c.*1366C>T	ENSP00000495259.1:n.*1366C>T
ENST00000646207.1:c.*1877C>T	ENSP00000495025.1:n.*1877C>T
ENST00000646276.1:c.*1683C>T	ENSP00000496070.1:n.*1683C>T
ENST00000646592.1:c.2716C>T
ENST00000646902.1:c.3407C>T	ENSP00000494101.1:p.Ser1136Phe
ENST00000646993.1:c.*1806C>T	ENSP00000493720.1:n.*1806C>T
ENST00000647013.1:c.3416C>T	ENSP00000496741.1:n.3416C>T
ENST00000647015.1:c.3161C>T	ENSP00000495389.1:p.Ser1054Phe
ENST00000647086.1:c.*3140C>T	ENSP00000493677.1:n.*3140C>T
ENST00000647158.1:c.*1551C>T	ENSP00000495744.1:n.*1551C>T
ENST00000302539.8:c.3413C>T	ENSP00000303960.4:p.Ser1138Phe
ENST00000389817.7:c.3410C>T	ENSP00000374467.3:p.Ser1137Phe
ENST00000524561.1:n.542C>T
ENST00000527905.5:c.*286C>T	ENSP00000431653.1:n.*286C>T
NM_000352.4:c.3410C>T	NP_000343.2:p.Ser1137Phe
NM_001287174.1:c.3413C>T	NP_001274103.1:p.Ser1138Phe
XM_011520331.1:c.3410C>T	XP_011518633.1:p.Ser1137Phe
XM_011520332.1:c.3413C>T	XP_011518634.1:p.Ser1138Phe
XM_011520333.1:c.1910C>T	XP_011518635.1:p.Ser637Phe
XR_930890.1:n.3476C>T
XR_930891.1:n.3477C>T
XR_930892.1:n.3376C>T
XR_930893.1:n.3373C>T
NM_001351295.1:c.3476C>T	NP_001338224.1:p.Ser1159Phe
NM_001351296.1:c.3410C>T	NP_001338225.1:p.Ser1137Phe
NM_001351297.1:c.3407C>T	NP_001338226.1:p.Ser1136Phe
NR_147094.1:n.3559C>T
XM_017018197.2:c.3479C>T	XP_016873686.1:p.Ser1160Phe
XM_017018199.1:c.3476C>T	XP_016873688.1:p.Ser1159Phe
XM_017018201.2:c.3479C>T	XP_016873690.1:p.Ser1160Phe
XM_017018202.1:c.1976C>T	XP_016873691.1:p.Ser659Phe
XM_017018204.1:c.1367C>T	XP_016873693.1:p.Ser456Phe
XM_024448668.1:c.1778C>T	XP_024304436.1:p.Ser593Phe
XR_001747945.2:n.3551C>T
XR_001747946.2:n.3482C>T
XR_002957189.1:n.3631C>T
NM_000352.6:c.3410C>T MANE Select	NP_000343.2:p.Ser1137Phe
NM_001287174.2:c.3413C>T	NP_001274103.1:p.Ser1138Phe
NM_001351295.2:c.3476C>T	NP_001338224.1:p.Ser1159Phe
NM_001351296.2:c.3410C>T	NP_001338225.1:p.Ser1137Phe
NM_001351297.2:c.3407C>T	NP_001338226.1:p.Ser1136Phe
NR_147094.2:n.3559C>T
NM_001287174.3:c.3413C>T	NP_001274103.1:p.Ser1138Phe