Canonical Allele Identifier: CA379790941

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418555T>A (hg19) ; chr11:g.17397008T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397008T>A , CM000673.2:g.17397008T>A	GRCh38
NC_000011.9:g.17418555T>A , CM000673.1:g.17418555T>A	GRCh37
NC_000011.8:g.17375131T>A	NCBI36
NG_008867.1:g.84895A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3628A>T
ENST00000528374.2:c.618A>T
ENST00000529967.6:n.2366A>T
ENST00000532220.2:n.2275A>T
ENST00000642611.2:n.4242A>T
ENST00000644057.2:n.470A>T
ENST00000645004.2:n.1526A>T
ENST00000682051.1:n.4189A>T
ENST00000682110.1:n.4242A>T
ENST00000682140.1:c.3985+185A>T	ENSP00000507829.1:n.3985+185A>T
ENST00000682185.1:n.5332A>T
ENST00000682204.1:c.*2165A>T	ENSP00000507094.1:n.*2165A>T
ENST00000682215.1:n.4609A>T
ENST00000682288.1:c.*2458A>T	ENSP00000507506.1:n.*2458A>T
ENST00000682442.1:n.4462A>T
ENST00000682528.1:n.4319A>T
ENST00000682673.1:n.4186A>T
ENST00000682805.1:n.4609A>T
ENST00000682965.1:c.*449A>T	ENSP00000508229.1:n.*449A>T
ENST00000683093.1:n.4341A>T
ENST00000683136.1:c.3910A>T	ENSP00000507768.1:p.Lys1304Ter
ENST00000683153.1:n.4284A>T
ENST00000683365.1:n.4344A>T
ENST00000683377.1:n.4242A>T
ENST00000683456.1:c.*1164A>T	ENSP00000508318.1:n.*1164A>T
ENST00000683522.1:n.4242A>T
ENST00000683562.1:c.*2196A>T	ENSP00000508265.1:n.*2196A>T
ENST00000683693.1:n.4689A>T
ENST00000683725.1:c.4027A>T	ENSP00000507496.1:p.Lys1343Ter
ENST00000684010.1:n.4237A>T
ENST00000684157.1:n.4242A>T
ENST00000684253.1:n.4145A>T
ENST00000684288.1:c.*2199A>T	ENSP00000507143.1:n.*2199A>T
ENST00000684313.1:n.3674A>T
ENST00000684332.1:n.4315A>T
ENST00000684371.1:n.4348A>T
ENST00000684404.1:n.4285A>T
ENST00000684442.1:n.4466A>T
ENST00000684555.1:c.*2239A>T	ENSP00000507705.1:n.*2239A>T
ENST00000684571.1:c.3868A>T	ENSP00000506935.1:p.Lys1290Ter
ENST00000684593.1:c.*3732A>T	ENSP00000507005.1:n.*3732A>T
ENST00000684711.1:c.*2423A>T	ENSP00000506841.1:n.*2423A>T
ENST00000302539.9:c.4030A>T	ENSP00000303960.4:p.Lys1344Ter
ENST00000389817.8:c.4027A>T MANE Select	ENSP00000374467.4:p.Lys1343Ter
ENST00000642271.1:c.4024A>T	ENSP00000493749.1:p.Lys1342Ter
ENST00000642579.1:c.2081A>T
ENST00000642611.1:n.4127A>T
ENST00000642902.1:c.3809A>T
ENST00000643260.1:c.4027A>T	ENSP00000494450.1:p.Lys1343Ter
ENST00000643562.1:c.*2149A>T	ENSP00000496124.1:n.*2149A>T
ENST00000643925.1:c.2667A>T
ENST00000644057.1:n.104A>T
ENST00000644484.1:c.*2428A>T	ENSP00000493558.1:n.*2428A>T
ENST00000644675.1:c.*2199A>T	ENSP00000494567.1:n.*2199A>T
ENST00000644757.1:c.*2458A>T	ENSP00000495085.1:n.*2458A>T
ENST00000644772.1:c.4093A>T	ENSP00000494321.1:p.Lys1365Ter
ENST00000645004.1:n.1682A>T
ENST00000645076.1:c.3226A>T
ENST00000645417.1:c.1215A>T
ENST00000645744.1:c.*2807A>T	ENSP00000494564.1:n.*2807A>T
ENST00000645760.1:c.4448A>T
ENST00000645884.1:c.*1310A>T	ENSP00000495516.1:n.*1310A>T
ENST00000646003.1:c.*2129A>T	ENSP00000495259.1:n.*2129A>T
ENST00000646207.1:c.*2864A>T	ENSP00000495025.1:n.*2864A>T
ENST00000646276.1:c.*2446A>T	ENSP00000496070.1:n.*2446A>T
ENST00000646592.1:c.3333A>T
ENST00000646902.1:c.3994A>T	ENSP00000494101.1:p.Lys1332Ter
ENST00000646993.1:c.*2569A>T	ENSP00000493720.1:n.*2569A>T
ENST00000647013.1:c.4033A>T	ENSP00000496741.1:n.4033A>T
ENST00000647015.1:c.3778A>T	ENSP00000495389.1:p.Lys1260Ter
ENST00000647086.1:c.*3613A>T	ENSP00000493677.1:n.*3613A>T
ENST00000647158.1:c.*2314A>T	ENSP00000495744.1:n.*2314A>T
ENST00000302539.8:c.4030A>T	ENSP00000303960.4:p.Lys1344Ter
ENST00000389817.7:c.4027A>T	ENSP00000374467.3:p.Lys1343Ter
ENST00000527905.5:c.*1049A>T	ENSP00000431653.1:n.*1049A>T
ENST00000528374.1:c.509A>T
ENST00000531137.1:n.592A>T
ENST00000531891.1:c.365A>T
ENST00000532220.1:n.501A>T
NM_000352.4:c.4027A>T	NP_000343.2:p.Lys1343Ter
NM_001287174.1:c.4030A>T	NP_001274103.1:p.Lys1344Ter
XM_011520331.1:c.4027A>T	XP_011518633.1:p.Lys1343Ter
XM_011520332.1:c.4030A>T	XP_011518634.1:p.Lys1344Ter
XM_011520333.1:c.2527A>T	XP_011518635.1:p.Lys843Ter
XR_930890.1:n.4093A>T
NM_001351295.1:c.4093A>T	NP_001338224.1:p.Lys1365Ter
NM_001351296.1:c.4027A>T	NP_001338225.1:p.Lys1343Ter
NM_001351297.1:c.4024A>T	NP_001338226.1:p.Lys1342Ter
NR_147094.1:n.4322A>T
XM_017018197.2:c.4096A>T	XP_016873686.1:p.Lys1366Ter
XM_017018199.1:c.4093A>T	XP_016873688.1:p.Lys1365Ter
XM_017018201.2:c.4096A>T	XP_016873690.1:p.Lys1366Ter
XM_017018202.1:c.2593A>T	XP_016873691.1:p.Lys865Ter
XM_017018204.1:c.1984A>T	XP_016873693.1:p.Lys662Ter
XM_024448668.1:c.2395A>T	XP_024304436.1:p.Lys799Ter
XR_001747945.2:n.4168A>T
XR_001747946.2:n.4099A>T
XR_002957189.1:n.4764A>T
NM_000352.6:c.4027A>T MANE Select	NP_000343.2:p.Lys1343Ter
NM_001287174.2:c.4030A>T	NP_001274103.1:p.Lys1344Ter
NM_001351295.2:c.4093A>T	NP_001338224.1:p.Lys1365Ter
NM_001351296.2:c.4027A>T	NP_001338225.1:p.Lys1343Ter
NM_001351297.2:c.4024A>T	NP_001338226.1:p.Lys1342Ter
NR_147094.2:n.4322A>T
NM_001287174.3:c.4030A>T	NP_001274103.1:p.Lys1344Ter