Canonical Allele Identifier: CA379791180

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418576T>A (hg19) ; chr11:g.17397029T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397029T>A , CM000673.2:g.17397029T>A	GRCh38
NC_000011.9:g.17418576T>A , CM000673.1:g.17418576T>A	GRCh37
NC_000011.8:g.17375152T>A	NCBI36
NG_008867.1:g.84874A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3607A>T
ENST00000528374.2:c.597A>T
ENST00000529967.6:n.2345A>T
ENST00000532220.2:n.2254A>T
ENST00000642611.2:n.4221A>T
ENST00000644057.2:n.449A>T
ENST00000645004.2:n.1505A>T
ENST00000682051.1:n.4168A>T
ENST00000682110.1:n.4221A>T
ENST00000682140.1:c.3985+164A>T	ENSP00000507829.1:n.3985+164A>T
ENST00000682185.1:n.5311A>T
ENST00000682204.1:c.*2144A>T	ENSP00000507094.1:n.*2144A>T
ENST00000682215.1:n.4588A>T
ENST00000682288.1:c.*2437A>T	ENSP00000507506.1:n.*2437A>T
ENST00000682442.1:n.4441A>T
ENST00000682528.1:n.4298A>T
ENST00000682673.1:n.4165A>T
ENST00000682805.1:n.4588A>T
ENST00000682965.1:c.*428A>T	ENSP00000508229.1:n.*428A>T
ENST00000683093.1:n.4320A>T
ENST00000683136.1:c.3889A>T	ENSP00000507768.1:p.Lys1297Ter
ENST00000683153.1:n.4263A>T
ENST00000683365.1:n.4323A>T
ENST00000683377.1:n.4221A>T
ENST00000683456.1:c.*1143A>T	ENSP00000508318.1:n.*1143A>T
ENST00000683522.1:n.4221A>T
ENST00000683562.1:c.*2175A>T	ENSP00000508265.1:n.*2175A>T
ENST00000683693.1:n.4668A>T
ENST00000683725.1:c.4006A>T	ENSP00000507496.1:p.Lys1336Ter
ENST00000684010.1:n.4216A>T
ENST00000684157.1:n.4221A>T
ENST00000684253.1:n.4124A>T
ENST00000684288.1:c.*2178A>T	ENSP00000507143.1:n.*2178A>T
ENST00000684313.1:n.3653A>T
ENST00000684332.1:n.4294A>T
ENST00000684371.1:n.4327A>T
ENST00000684404.1:n.4264A>T
ENST00000684442.1:n.4445A>T
ENST00000684555.1:c.*2218A>T	ENSP00000507705.1:n.*2218A>T
ENST00000684571.1:c.3847A>T	ENSP00000506935.1:p.Lys1283Ter
ENST00000684593.1:c.*3711A>T	ENSP00000507005.1:n.*3711A>T
ENST00000684711.1:c.*2402A>T	ENSP00000506841.1:n.*2402A>T
ENST00000302539.9:c.4009A>T	ENSP00000303960.4:p.Lys1337Ter
ENST00000389817.8:c.4006A>T MANE Select	ENSP00000374467.4:p.Lys1336Ter
ENST00000642271.1:c.4003A>T	ENSP00000493749.1:p.Lys1335Ter
ENST00000642579.1:c.2073-13A>T
ENST00000642611.1:n.4106A>T
ENST00000642902.1:c.3788A>T
ENST00000643260.1:c.4006A>T	ENSP00000494450.1:p.Lys1336Ter
ENST00000643562.1:c.*2128A>T	ENSP00000496124.1:n.*2128A>T
ENST00000643925.1:c.2646A>T
ENST00000644057.1:n.83A>T
ENST00000644484.1:c.*2407A>T	ENSP00000493558.1:n.*2407A>T
ENST00000644675.1:c.*2178A>T	ENSP00000494567.1:n.*2178A>T
ENST00000644757.1:c.*2437A>T	ENSP00000495085.1:n.*2437A>T
ENST00000644772.1:c.4072A>T	ENSP00000494321.1:p.Lys1358Ter
ENST00000645004.1:n.1661A>T
ENST00000645076.1:c.3205A>T
ENST00000645417.1:c.1194A>T
ENST00000645744.1:c.*2786A>T	ENSP00000494564.1:n.*2786A>T
ENST00000645760.1:c.4427A>T
ENST00000645884.1:c.*1289A>T	ENSP00000495516.1:n.*1289A>T
ENST00000646003.1:c.*2108A>T	ENSP00000495259.1:n.*2108A>T
ENST00000646207.1:c.*2843A>T	ENSP00000495025.1:n.*2843A>T
ENST00000646276.1:c.*2425A>T	ENSP00000496070.1:n.*2425A>T
ENST00000646592.1:c.3312A>T
ENST00000646902.1:c.3986-13A>T	ENSP00000494101.1:n.3986-13A>T
ENST00000646993.1:c.*2548A>T	ENSP00000493720.1:n.*2548A>T
ENST00000647013.1:c.4012A>T	ENSP00000496741.1:n.4012A>T
ENST00000647015.1:c.3757A>T	ENSP00000495389.1:p.Lys1253Ter
ENST00000647086.1:c.*3605-13A>T	ENSP00000493677.1:n.*3605-13A>T
ENST00000647158.1:c.*2293A>T	ENSP00000495744.1:n.*2293A>T
ENST00000302539.8:c.4009A>T	ENSP00000303960.4:p.Lys1337Ter
ENST00000389817.7:c.4006A>T	ENSP00000374467.3:p.Lys1336Ter
ENST00000527905.5:c.*1028A>T	ENSP00000431653.1:n.*1028A>T
ENST00000528374.1:c.488A>T
ENST00000531137.1:n.571A>T
ENST00000531891.1:c.357-13A>T
ENST00000532220.1:n.480A>T
NM_000352.4:c.4006A>T	NP_000343.2:p.Lys1336Ter
NM_001287174.1:c.4009A>T	NP_001274103.1:p.Lys1337Ter
XM_011520331.1:c.4006A>T	XP_011518633.1:p.Lys1336Ter
XM_011520332.1:c.4009A>T	XP_011518634.1:p.Lys1337Ter
XM_011520333.1:c.2506A>T	XP_011518635.1:p.Lys836Ter
XR_930890.1:n.4072A>T
NM_001351295.1:c.4072A>T	NP_001338224.1:p.Lys1358Ter
NM_001351296.1:c.4006A>T	NP_001338225.1:p.Lys1336Ter
NM_001351297.1:c.4003A>T	NP_001338226.1:p.Lys1335Ter
NR_147094.1:n.4301A>T
XM_017018197.2:c.4075A>T	XP_016873686.1:p.Lys1359Ter
XM_017018199.1:c.4072A>T	XP_016873688.1:p.Lys1358Ter
XM_017018201.2:c.4075A>T	XP_016873690.1:p.Lys1359Ter
XM_017018202.1:c.2572A>T	XP_016873691.1:p.Lys858Ter
XM_017018204.1:c.1963A>T	XP_016873693.1:p.Lys655Ter
XM_024448668.1:c.2374A>T	XP_024304436.1:p.Lys792Ter
XR_001747945.2:n.4147A>T
XR_001747946.2:n.4078A>T
XR_002957189.1:n.4743A>T
NM_000352.6:c.4006A>T MANE Select	NP_000343.2:p.Lys1336Ter
NM_001287174.2:c.4009A>T	NP_001274103.1:p.Lys1337Ter
NM_001351295.2:c.4072A>T	NP_001338224.1:p.Lys1358Ter
NM_001351296.2:c.4006A>T	NP_001338225.1:p.Lys1336Ter
NM_001351297.2:c.4003A>T	NP_001338226.1:p.Lys1335Ter
NR_147094.2:n.4301A>T
NM_001287174.3:c.4009A>T	NP_001274103.1:p.Lys1337Ter