Canonical Allele Identifier: CA379804991

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429977T>G (hg19) ; chr11:g.17408430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408430T>G , CM000673.2:g.17408430T>G	GRCh38
NC_000011.9:g.17429977T>G , CM000673.1:g.17429977T>G	GRCh37
NC_000011.8:g.17386553T>G	NCBI36
NG_008867.1:g.73473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2451A>C
ENST00000529967.6:n.1041A>C
ENST00000532220.2:n.514A>C
ENST00000642611.2:n.2851A>C
ENST00000682051.1:n.2798A>C
ENST00000682110.1:n.2851A>C
ENST00000682140.1:c.2779A>C	ENSP00000507829.1:p.Lys927Gln
ENST00000682185.1:n.4087A>C
ENST00000682204.1:c.*920A>C	ENSP00000507094.1:n.*920A>C
ENST00000682215.1:n.2848A>C
ENST00000682288.1:c.*1213A>C	ENSP00000507506.1:n.*1213A>C
ENST00000682442.1:n.2972A>C
ENST00000682528.1:n.2848A>C
ENST00000682673.1:n.2795A>C
ENST00000682805.1:n.2848A>C
ENST00000682965.1:c.2779A>C	ENSP00000508229.1:p.Lys927Gln
ENST00000683093.1:n.2950A>C
ENST00000683136.1:c.2779A>C	ENSP00000507768.1:p.Lys927Gln
ENST00000683153.1:n.3007A>C
ENST00000683365.1:n.2953A>C
ENST00000683377.1:n.2851A>C
ENST00000683456.1:c.2782A>C	ENSP00000508318.1:p.Lys928Gln
ENST00000683522.1:n.2851A>C
ENST00000683562.1:c.*951A>C	ENSP00000508265.1:n.*951A>C
ENST00000683693.1:n.2848A>C
ENST00000683725.1:c.2782A>C	ENSP00000507496.1:p.Lys928Gln
ENST00000684010.1:n.2766A>C
ENST00000684157.1:n.2851A>C
ENST00000684253.1:n.2754A>C
ENST00000684288.1:c.*954A>C	ENSP00000507143.1:n.*954A>C
ENST00000684313.1:n.2283A>C
ENST00000684332.1:n.2924A>C
ENST00000684371.1:n.2957A>C
ENST00000684404.1:n.2848A>C
ENST00000684442.1:n.2851A>C
ENST00000684555.1:c.*994A>C	ENSP00000507705.1:n.*994A>C
ENST00000684571.1:c.2623A>C	ENSP00000506935.1:p.Lys875Gln
ENST00000684593.1:c.*2487A>C	ENSP00000507005.1:n.*2487A>C
ENST00000684711.1:c.*1178A>C	ENSP00000506841.1:n.*1178A>C
ENST00000302539.9:c.2785A>C	ENSP00000303960.4:p.Lys929Gln
ENST00000389817.8:c.2782A>C MANE Select	ENSP00000374467.4:p.Lys928Gln
ENST00000642271.1:c.2779A>C	ENSP00000493749.1:p.Lys927Gln
ENST00000642579.1:c.866A>C
ENST00000642611.1:n.2736A>C
ENST00000642902.1:c.2617A>C
ENST00000643260.1:c.2782A>C	ENSP00000494450.1:p.Lys928Gln
ENST00000643562.1:c.*758A>C	ENSP00000496124.1:n.*758A>C
ENST00000643925.1:c.826A>C
ENST00000644447.1:c.1138A>C	ENSP00000496282.1:p.Lys380Gln
ENST00000644484.1:c.*991A>C	ENSP00000493558.1:n.*991A>C
ENST00000644542.1:c.*2487A>C	ENSP00000495532.1:n.*2487A>C
ENST00000644675.1:c.*954A>C	ENSP00000494567.1:n.*954A>C
ENST00000644757.1:c.*1087A>C	ENSP00000495085.1:n.*1087A>C
ENST00000644772.1:c.2848A>C	ENSP00000494321.1:p.Lys950Gln
ENST00000645076.1:c.2034A>C
ENST00000645744.1:c.*1146A>C	ENSP00000494564.1:n.*1146A>C
ENST00000645760.1:c.3057A>C
ENST00000645884.1:c.2782A>C	ENSP00000495516.1:p.Lys928Gln
ENST00000646003.1:c.*838A>C	ENSP00000495259.1:n.*838A>C
ENST00000646207.1:c.*1146A>C	ENSP00000495025.1:n.*1146A>C
ENST00000646276.1:c.*1055A>C	ENSP00000496070.1:n.*1055A>C
ENST00000646592.1:c.2008A>C
ENST00000646902.1:c.2779A>C	ENSP00000494101.1:p.Lys927Gln
ENST00000646993.1:c.*1178A>C	ENSP00000493720.1:n.*1178A>C
ENST00000647013.1:c.2788A>C	ENSP00000496741.1:n.2788A>C
ENST00000647015.1:c.2533A>C	ENSP00000495389.1:p.Lys845Gln
ENST00000647086.1:c.*2512A>C	ENSP00000493677.1:n.*2512A>C
ENST00000647158.1:c.*923A>C	ENSP00000495744.1:n.*923A>C
ENST00000302539.8:c.2785A>C	ENSP00000303960.4:p.Lys929Gln
ENST00000389817.7:c.2782A>C	ENSP00000374467.3:p.Lys928Gln
ENST00000526921.5:n.466A>C
ENST00000527905.5:c.2752A>C	ENSP00000431653.1:p.Lys918Gln
ENST00000529967.5:n.451A>C
NM_000352.4:c.2782A>C	NP_000343.2:p.Lys928Gln
NM_001287174.1:c.2785A>C	NP_001274103.1:p.Lys929Gln
XM_011520331.1:c.2782A>C	XP_011518633.1:p.Lys928Gln
XM_011520332.1:c.2785A>C	XP_011518634.1:p.Lys929Gln
XM_011520333.1:c.1282A>C	XP_011518635.1:p.Lys428Gln
XM_011520334.1:c.2785A>C	XP_011518636.1:p.Lys929Gln
XR_930890.1:n.2848A>C
XR_930891.1:n.2848A>C
XR_930892.1:n.2848A>C
XR_930893.1:n.2845A>C
NM_001351295.1:c.2848A>C	NP_001338224.1:p.Lys950Gln
NM_001351296.1:c.2782A>C	NP_001338225.1:p.Lys928Gln
NM_001351297.1:c.2779A>C	NP_001338226.1:p.Lys927Gln
NR_147094.1:n.2851A>C
XM_017018197.2:c.2851A>C	XP_016873686.1:p.Lys951Gln
XM_017018199.1:c.2848A>C	XP_016873688.1:p.Lys950Gln
XM_017018201.2:c.2851A>C	XP_016873690.1:p.Lys951Gln
XM_017018202.1:c.1348A>C	XP_016873691.1:p.Lys450Gln
XM_017018204.1:c.739A>C	XP_016873693.1:p.Lys247Gln
XM_024448668.1:c.1150A>C	XP_024304436.1:p.Lys384Gln
XR_001747945.2:n.2923A>C
XR_001747946.2:n.2854A>C
XR_002957189.1:n.2923A>C
NM_000352.6:c.2782A>C MANE Select	NP_000343.2:p.Lys928Gln
NM_001287174.2:c.2785A>C	NP_001274103.1:p.Lys929Gln
NM_001351295.2:c.2848A>C	NP_001338224.1:p.Lys950Gln
NM_001351296.2:c.2782A>C	NP_001338225.1:p.Lys928Gln
NM_001351297.2:c.2779A>C	NP_001338226.1:p.Lys927Gln
NR_147094.2:n.2851A>C
NM_001287174.3:c.2785A>C	NP_001274103.1:p.Lys929Gln