Canonical Allele Identifier: CA473298028

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415268T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393721T>A , CM000673.2:g.17393721T>A	GRCh38
NC_000011.9:g.17415268T>A , CM000673.1:g.17415268T>A	GRCh37
NC_000011.8:g.17371844T>A	NCBI36
NG_008867.1:g.88182A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4185A>T
ENST00000526037.6:n.519A>T
ENST00000528374.2:c.1175A>T
ENST00000529967.6:n.2923A>T
ENST00000532220.2:n.3817A>T
ENST00000642611.2:n.5917A>T
ENST00000644057.2:n.1160A>T
ENST00000645004.2:n.2083A>T
ENST00000682051.1:n.4746A>T
ENST00000682110.1:n.4799A>T
ENST00000682140.1:c.*370A>T	ENSP00000507829.1:n.*370A>T
ENST00000682185.1:n.5889A>T
ENST00000682204.1:c.*2722A>T	ENSP00000507094.1:n.*2722A>T
ENST00000682215.1:n.5166A>T
ENST00000682288.1:c.*3015A>T	ENSP00000507506.1:n.*3015A>T
ENST00000682442.1:n.5019A>T
ENST00000682528.1:n.4876A>T
ENST00000682673.1:n.4743A>T
ENST00000682805.1:n.5204A>T
ENST00000682965.1:c.*1006A>T	ENSP00000508229.1:n.*1006A>T
ENST00000683093.1:n.5779A>T
ENST00000683136.1:c.4467A>T	ENSP00000507768.1:p.Ala1489=
ENST00000683153.1:n.4841A>T
ENST00000683365.1:n.4901A>T
ENST00000683377.1:n.4695A>T
ENST00000683456.1:c.*1721A>T	ENSP00000508318.1:n.*1721A>T
ENST00000683522.1:n.4881A>T
ENST00000683562.1:c.*2649A>T	ENSP00000508265.1:n.*2649A>T
ENST00000683693.1:n.6260A>T
ENST00000683725.1:c.*49A>T	ENSP00000507496.1:n.*49A>T
ENST00000684010.1:n.4794A>T
ENST00000684014.1:n.771A>T
ENST00000684157.1:n.5784A>T
ENST00000684253.1:n.4702A>T
ENST00000684288.1:c.*2756A>T	ENSP00000507143.1:n.*2756A>T
ENST00000684313.1:n.4231A>T
ENST00000684332.1:n.4872A>T
ENST00000684371.1:n.4905A>T
ENST00000684404.1:n.5827A>T
ENST00000684442.1:n.5023A>T
ENST00000684555.1:c.*2796A>T	ENSP00000507705.1:n.*2796A>T
ENST00000684571.1:c.4425A>T	ENSP00000506935.1:p.Ala1475=
ENST00000684593.1:c.*4289A>T	ENSP00000507005.1:n.*4289A>T
ENST00000684711.1:c.*2980A>T	ENSP00000506841.1:n.*2980A>T
ENST00000302539.9:c.4587A>T	ENSP00000303960.4:p.Ala1529=
ENST00000389817.8:c.4584A>T MANE Select	ENSP00000374467.4:p.Ala1528=
ENST00000642271.1:c.4581A>T	ENSP00000493749.1:p.Ala1527=
ENST00000642579.1:c.2638A>T
ENST00000642611.1:n.5802A>T
ENST00000642902.1:c.4366A>T
ENST00000643260.1:c.4584A>T	ENSP00000494450.1:p.Ala1528=
ENST00000643562.1:c.*2706A>T	ENSP00000496124.1:n.*2706A>T
ENST00000643925.1:c.3185+545A>T
ENST00000644057.1:n.743A>T
ENST00000644484.1:c.*3970A>T	ENSP00000493558.1:n.*3970A>T
ENST00000644675.1:c.*2756A>T	ENSP00000494567.1:n.*2756A>T
ENST00000644757.1:c.*3203-741A>T	ENSP00000495085.1:n.*3203-741A>T
ENST00000644772.1:c.4650A>T	ENSP00000494321.1:p.Ala1550=
ENST00000645004.1:n.2277A>T
ENST00000645076.1:c.3679A>T
ENST00000645417.1:c.1772A>T
ENST00000645744.1:c.*4269A>T	ENSP00000494564.1:n.*4269A>T
ENST00000645760.1:c.5005A>T
ENST00000645884.1:c.*1867A>T	ENSP00000495516.1:n.*1867A>T
ENST00000646003.1:c.*2606A>T	ENSP00000495259.1:n.*2606A>T
ENST00000646207.1:c.*3421A>T	ENSP00000495025.1:n.*3421A>T
ENST00000646276.1:c.*3988A>T	ENSP00000496070.1:n.*3988A>T
ENST00000646592.1:c.3890A>T
ENST00000646902.1:c.4551A>T	ENSP00000494101.1:p.Ala1517=
ENST00000646993.1:c.*3022A>T	ENSP00000493720.1:n.*3022A>T
ENST00000647015.1:c.4335A>T	ENSP00000495389.1:p.Ala1445=
ENST00000647086.1:c.*4170A>T	ENSP00000493677.1:n.*4170A>T
ENST00000647158.1:c.*2871A>T	ENSP00000495744.1:n.*2871A>T
ENST00000302539.8:c.4587A>T	ENSP00000303960.4:p.Ala1529=
ENST00000389817.7:c.4584A>T	ENSP00000374467.3:p.Ala1528=
ENST00000525022.1:n.479A>T
ENST00000526037.5:n.344A>T
ENST00000526168.5:c.372A>T
ENST00000531642.5:c.615A>T
NM_000352.4:c.4584A>T	NP_000343.2:p.Ala1528=
NM_001287174.1:c.4587A>T	NP_001274103.1:p.Ala1529=
XM_011520331.1:c.4584A>T	XP_011518633.1:p.Ala1528=
XM_011520333.1:c.3084A>T	XP_011518635.1:p.Ala1028=
XR_930890.1:n.4546A>T
NM_001351295.1:c.4650A>T	NP_001338224.1:p.Ala1550=
NM_001351296.1:c.4584A>T	NP_001338225.1:p.Ala1528=
NM_001351297.1:c.4581A>T	NP_001338226.1:p.Ala1527=
NR_147094.1:n.4879A>T
XM_017018197.2:c.4653A>T	XP_016873686.1:p.Ala1551=
XM_017018199.1:c.4650A>T	XP_016873688.1:p.Ala1550=
XM_017018202.1:c.3150A>T	XP_016873691.1:p.Ala1050=
XM_017018204.1:c.2541A>T	XP_016873693.1:p.Ala847=
XM_024448668.1:c.2952A>T	XP_024304436.1:p.Ala984=
XR_001747945.2:n.4621A>T
XR_001747946.2:n.4552A>T
XR_002957189.1:n.6335A>T
NM_000352.6:c.4584A>T MANE Select	NP_000343.2:p.Ala1528=
NM_001287174.2:c.4587A>T	NP_001274103.1:p.Ala1529=
NM_001351295.2:c.4650A>T	NP_001338224.1:p.Ala1550=
NM_001351296.2:c.4584A>T	NP_001338225.1:p.Ala1528=
NM_001351297.2:c.4581A>T	NP_001338226.1:p.Ala1527=
NR_147094.2:n.4879A>T
NM_001287174.3:c.4587A>T	NP_001274103.1:p.Ala1529=