Canonical Allele Identifier: CA379788183

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417443G>A (hg19) ; chr11:g.17395896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395896G>A , CM000673.2:g.17395896G>A	GRCh38
NC_000011.9:g.17417443G>A , CM000673.1:g.17417443G>A	GRCh37
NC_000011.8:g.17374019G>A	NCBI36
NG_008867.1:g.86007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3755C>T
ENST00000528374.2:c.745C>T
ENST00000529967.6:n.2493C>T
ENST00000532220.2:n.3387C>T
ENST00000642611.2:n.5354C>T
ENST00000644057.2:n.597C>T
ENST00000645004.2:n.1653C>T
ENST00000682051.1:n.4316C>T
ENST00000682110.1:n.4369C>T
ENST00000682140.1:c.4020C>T	ENSP00000507829.1:p.Val1340=
ENST00000682185.1:n.5459C>T
ENST00000682204.1:c.*2292C>T	ENSP00000507094.1:n.*2292C>T
ENST00000682215.1:n.4736C>T
ENST00000682288.1:c.*2585C>T	ENSP00000507506.1:n.*2585C>T
ENST00000682442.1:n.4589C>T
ENST00000682528.1:n.4446C>T
ENST00000682673.1:n.4313C>T
ENST00000682805.1:n.4774C>T
ENST00000682965.1:c.*576C>T	ENSP00000508229.1:n.*576C>T
ENST00000683093.1:n.5453C>T
ENST00000683136.1:c.4037C>T	ENSP00000507768.1:p.Ser1346Phe
ENST00000683153.1:n.4411C>T
ENST00000683365.1:n.4471C>T
ENST00000683377.1:n.4369C>T
ENST00000683456.1:c.*1291C>T	ENSP00000508318.1:n.*1291C>T
ENST00000683522.1:n.4369C>T
ENST00000683562.1:c.*2323C>T	ENSP00000508265.1:n.*2323C>T
ENST00000683693.1:n.5801C>T
ENST00000683725.1:c.4154C>T	ENSP00000507496.1:p.Ser1385Phe
ENST00000684010.1:n.4364C>T
ENST00000684157.1:n.5354C>T
ENST00000684253.1:n.4272C>T
ENST00000684288.1:c.*2326C>T	ENSP00000507143.1:n.*2326C>T
ENST00000684313.1:n.3801C>T
ENST00000684332.1:n.4442C>T
ENST00000684371.1:n.4475C>T
ENST00000684404.1:n.5397C>T
ENST00000684442.1:n.4593C>T
ENST00000684555.1:c.*2366C>T	ENSP00000507705.1:n.*2366C>T
ENST00000684571.1:c.3995C>T	ENSP00000506935.1:p.Ser1332Phe
ENST00000684593.1:c.*3859C>T	ENSP00000507005.1:n.*3859C>T
ENST00000684711.1:c.*2550C>T	ENSP00000506841.1:n.*2550C>T
ENST00000302539.9:c.4157C>T	ENSP00000303960.4:p.Ser1386Phe
ENST00000389817.8:c.4154C>T MANE Select	ENSP00000374467.4:p.Ser1385Phe
ENST00000642271.1:c.4151C>T	ENSP00000493749.1:p.Ser1384Phe
ENST00000642579.1:c.2208C>T
ENST00000642611.1:n.5239C>T
ENST00000642902.1:c.3936C>T
ENST00000643260.1:c.4154C>T	ENSP00000494450.1:p.Ser1385Phe
ENST00000643562.1:c.*2276C>T	ENSP00000496124.1:n.*2276C>T
ENST00000643925.1:c.2794C>T
ENST00000644057.1:n.231C>T
ENST00000644484.1:c.*3540C>T	ENSP00000493558.1:n.*3540C>T
ENST00000644675.1:c.*2326C>T	ENSP00000494567.1:n.*2326C>T
ENST00000644757.1:c.*3202+368C>T	ENSP00000495085.1:n.*3202+368C>T
ENST00000644772.1:c.4220C>T	ENSP00000494321.1:p.Ser1407Phe
ENST00000645004.1:n.1847C>T
ENST00000645076.1:c.3353C>T
ENST00000645417.1:c.1342C>T
ENST00000645744.1:c.*3919C>T	ENSP00000494564.1:n.*3919C>T
ENST00000645760.1:c.4575C>T
ENST00000645884.1:c.*1437C>T	ENSP00000495516.1:n.*1437C>T
ENST00000646003.1:c.*2256C>T	ENSP00000495259.1:n.*2256C>T
ENST00000646207.1:c.*2991C>T	ENSP00000495025.1:n.*2991C>T
ENST00000646276.1:c.*3558C>T	ENSP00000496070.1:n.*3558C>T
ENST00000646592.1:c.3460C>T
ENST00000646902.1:c.4121C>T	ENSP00000494101.1:p.Ser1374Phe
ENST00000646993.1:c.*2696C>T	ENSP00000493720.1:n.*2696C>T
ENST00000647013.1:c.4160C>T	ENSP00000496741.1:n.4160C>T
ENST00000647015.1:c.3905C>T	ENSP00000495389.1:p.Ser1302Phe
ENST00000647086.1:c.*3740C>T	ENSP00000493677.1:n.*3740C>T
ENST00000647158.1:c.*2441C>T	ENSP00000495744.1:n.*2441C>T
ENST00000302539.8:c.4157C>T	ENSP00000303960.4:p.Ser1386Phe
ENST00000389817.7:c.4154C>T	ENSP00000374467.3:p.Ser1385Phe
ENST00000525022.1:n.20C>T
ENST00000526168.5:c.22C>T
NM_000352.4:c.4154C>T	NP_000343.2:p.Ser1385Phe
NM_001287174.1:c.4157C>T	NP_001274103.1:p.Ser1386Phe
XM_011520331.1:c.4154C>T	XP_011518633.1:p.Ser1385Phe
XM_011520332.1:c.4157C>T	XP_011518634.1:p.Ser1386Phe
XM_011520333.1:c.2654C>T	XP_011518635.1:p.Ser885Phe
XR_930890.1:n.4220C>T
NM_001351295.1:c.4220C>T	NP_001338224.1:p.Ser1407Phe
NM_001351296.1:c.4154C>T	NP_001338225.1:p.Ser1385Phe
NM_001351297.1:c.4151C>T	NP_001338226.1:p.Ser1384Phe
NR_147094.1:n.4449C>T
XM_017018197.2:c.4223C>T	XP_016873686.1:p.Ser1408Phe
XM_017018199.1:c.4220C>T	XP_016873688.1:p.Ser1407Phe
XM_017018201.2:c.4223C>T	XP_016873690.1:p.Ser1408Phe
XM_017018202.1:c.2720C>T	XP_016873691.1:p.Ser907Phe
XM_017018204.1:c.2111C>T	XP_016873693.1:p.Ser704Phe
XM_024448668.1:c.2522C>T	XP_024304436.1:p.Ser841Phe
XR_001747945.2:n.4295C>T
XR_001747946.2:n.4226C>T
XR_002957189.1:n.5876C>T
NM_000352.6:c.4154C>T MANE Select	NP_000343.2:p.Ser1385Phe
NM_001287174.2:c.4157C>T	NP_001274103.1:p.Ser1386Phe
NM_001351295.2:c.4220C>T	NP_001338224.1:p.Ser1407Phe
NM_001351296.2:c.4154C>T	NP_001338225.1:p.Ser1385Phe
NM_001351297.2:c.4151C>T	NP_001338226.1:p.Ser1384Phe
NR_147094.2:n.4449C>T
NM_001287174.3:c.4157C>T	NP_001274103.1:p.Ser1386Phe