Canonical Allele Identifier: CA379791176

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418575T>G (hg19) ; chr11:g.17397028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397028T>G , CM000673.2:g.17397028T>G	GRCh38
NC_000011.9:g.17418575T>G , CM000673.1:g.17418575T>G	GRCh37
NC_000011.8:g.17375151T>G	NCBI36
NG_008867.1:g.84875A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3608A>C
ENST00000528374.2:c.598A>C
ENST00000529967.6:n.2346A>C
ENST00000532220.2:n.2255A>C
ENST00000642611.2:n.4222A>C
ENST00000644057.2:n.450A>C
ENST00000645004.2:n.1506A>C
ENST00000682051.1:n.4169A>C
ENST00000682110.1:n.4222A>C
ENST00000682140.1:c.3985+165A>C	ENSP00000507829.1:n.3985+165A>C
ENST00000682185.1:n.5312A>C
ENST00000682204.1:c.*2145A>C	ENSP00000507094.1:n.*2145A>C
ENST00000682215.1:n.4589A>C
ENST00000682288.1:c.*2438A>C	ENSP00000507506.1:n.*2438A>C
ENST00000682442.1:n.4442A>C
ENST00000682528.1:n.4299A>C
ENST00000682673.1:n.4166A>C
ENST00000682805.1:n.4589A>C
ENST00000682965.1:c.*429A>C	ENSP00000508229.1:n.*429A>C
ENST00000683093.1:n.4321A>C
ENST00000683136.1:c.3890A>C	ENSP00000507768.1:p.Lys1297Thr
ENST00000683153.1:n.4264A>C
ENST00000683365.1:n.4324A>C
ENST00000683377.1:n.4222A>C
ENST00000683456.1:c.*1144A>C	ENSP00000508318.1:n.*1144A>C
ENST00000683522.1:n.4222A>C
ENST00000683562.1:c.*2176A>C	ENSP00000508265.1:n.*2176A>C
ENST00000683693.1:n.4669A>C
ENST00000683725.1:c.4007A>C	ENSP00000507496.1:p.Lys1336Thr
ENST00000684010.1:n.4217A>C
ENST00000684157.1:n.4222A>C
ENST00000684253.1:n.4125A>C
ENST00000684288.1:c.*2179A>C	ENSP00000507143.1:n.*2179A>C
ENST00000684313.1:n.3654A>C
ENST00000684332.1:n.4295A>C
ENST00000684371.1:n.4328A>C
ENST00000684404.1:n.4265A>C
ENST00000684442.1:n.4446A>C
ENST00000684555.1:c.*2219A>C	ENSP00000507705.1:n.*2219A>C
ENST00000684571.1:c.3848A>C	ENSP00000506935.1:p.Lys1283Thr
ENST00000684593.1:c.*3712A>C	ENSP00000507005.1:n.*3712A>C
ENST00000684711.1:c.*2403A>C	ENSP00000506841.1:n.*2403A>C
ENST00000302539.9:c.4010A>C	ENSP00000303960.4:p.Lys1337Thr
ENST00000389817.8:c.4007A>C MANE Select	ENSP00000374467.4:p.Lys1336Thr
ENST00000642271.1:c.4004A>C	ENSP00000493749.1:p.Lys1335Thr
ENST00000642579.1:c.2073-12A>C
ENST00000642611.1:n.4107A>C
ENST00000642902.1:c.3789A>C
ENST00000643260.1:c.4007A>C	ENSP00000494450.1:p.Lys1336Thr
ENST00000643562.1:c.*2129A>C	ENSP00000496124.1:n.*2129A>C
ENST00000643925.1:c.2647A>C
ENST00000644057.1:n.84A>C
ENST00000644484.1:c.*2408A>C	ENSP00000493558.1:n.*2408A>C
ENST00000644675.1:c.*2179A>C	ENSP00000494567.1:n.*2179A>C
ENST00000644757.1:c.*2438A>C	ENSP00000495085.1:n.*2438A>C
ENST00000644772.1:c.4073A>C	ENSP00000494321.1:p.Lys1358Thr
ENST00000645004.1:n.1662A>C
ENST00000645076.1:c.3206A>C
ENST00000645417.1:c.1195A>C
ENST00000645744.1:c.*2787A>C	ENSP00000494564.1:n.*2787A>C
ENST00000645760.1:c.4428A>C
ENST00000645884.1:c.*1290A>C	ENSP00000495516.1:n.*1290A>C
ENST00000646003.1:c.*2109A>C	ENSP00000495259.1:n.*2109A>C
ENST00000646207.1:c.*2844A>C	ENSP00000495025.1:n.*2844A>C
ENST00000646276.1:c.*2426A>C	ENSP00000496070.1:n.*2426A>C
ENST00000646592.1:c.3313A>C
ENST00000646902.1:c.3986-12A>C	ENSP00000494101.1:n.3986-12A>C
ENST00000646993.1:c.*2549A>C	ENSP00000493720.1:n.*2549A>C
ENST00000647013.1:c.4013A>C	ENSP00000496741.1:n.4013A>C
ENST00000647015.1:c.3758A>C	ENSP00000495389.1:p.Lys1253Thr
ENST00000647086.1:c.*3605-12A>C	ENSP00000493677.1:n.*3605-12A>C
ENST00000647158.1:c.*2294A>C	ENSP00000495744.1:n.*2294A>C
ENST00000302539.8:c.4010A>C	ENSP00000303960.4:p.Lys1337Thr
ENST00000389817.7:c.4007A>C	ENSP00000374467.3:p.Lys1336Thr
ENST00000527905.5:c.*1029A>C	ENSP00000431653.1:n.*1029A>C
ENST00000528374.1:c.489A>C
ENST00000531137.1:n.572A>C
ENST00000531891.1:c.357-12A>C
ENST00000532220.1:n.481A>C
NM_000352.4:c.4007A>C	NP_000343.2:p.Lys1336Thr
NM_001287174.1:c.4010A>C	NP_001274103.1:p.Lys1337Thr
XM_011520331.1:c.4007A>C	XP_011518633.1:p.Lys1336Thr
XM_011520332.1:c.4010A>C	XP_011518634.1:p.Lys1337Thr
XM_011520333.1:c.2507A>C	XP_011518635.1:p.Lys836Thr
XR_930890.1:n.4073A>C
NM_001351295.1:c.4073A>C	NP_001338224.1:p.Lys1358Thr
NM_001351296.1:c.4007A>C	NP_001338225.1:p.Lys1336Thr
NM_001351297.1:c.4004A>C	NP_001338226.1:p.Lys1335Thr
NR_147094.1:n.4302A>C
XM_017018197.2:c.4076A>C	XP_016873686.1:p.Lys1359Thr
XM_017018199.1:c.4073A>C	XP_016873688.1:p.Lys1358Thr
XM_017018201.2:c.4076A>C	XP_016873690.1:p.Lys1359Thr
XM_017018202.1:c.2573A>C	XP_016873691.1:p.Lys858Thr
XM_017018204.1:c.1964A>C	XP_016873693.1:p.Lys655Thr
XM_024448668.1:c.2375A>C	XP_024304436.1:p.Lys792Thr
XR_001747945.2:n.4148A>C
XR_001747946.2:n.4079A>C
XR_002957189.1:n.4744A>C
NM_000352.6:c.4007A>C MANE Select	NP_000343.2:p.Lys1336Thr
NM_001287174.2:c.4010A>C	NP_001274103.1:p.Lys1337Thr
NM_001351295.2:c.4073A>C	NP_001338224.1:p.Lys1358Thr
NM_001351296.2:c.4007A>C	NP_001338225.1:p.Lys1336Thr
NM_001351297.2:c.4004A>C	NP_001338226.1:p.Lys1335Thr
NR_147094.2:n.4302A>C
NM_001287174.3:c.4010A>C	NP_001274103.1:p.Lys1337Thr