Canonical Allele Identifier: CA473298026

Gene: ABCC8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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