Canonical Allele Identifier: CA379804981

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429975C>G (hg19) ; chr11:g.17408428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408428C>G , CM000673.2:g.17408428C>G	GRCh38
NC_000011.9:g.17429975C>G , CM000673.1:g.17429975C>G	GRCh37
NC_000011.8:g.17386551C>G	NCBI36
NG_008867.1:g.73475G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2453G>C
ENST00000529967.6:n.1043G>C
ENST00000532220.2:n.516G>C
ENST00000642611.2:n.2853G>C
ENST00000682051.1:n.2800G>C
ENST00000682110.1:n.2853G>C
ENST00000682140.1:c.2781G>C	ENSP00000507829.1:p.Lys927Asn
ENST00000682185.1:n.4089G>C
ENST00000682204.1:c.*922G>C	ENSP00000507094.1:n.*922G>C
ENST00000682215.1:n.2850G>C
ENST00000682288.1:c.*1215G>C	ENSP00000507506.1:n.*1215G>C
ENST00000682442.1:n.2974G>C
ENST00000682528.1:n.2850G>C
ENST00000682673.1:n.2797G>C
ENST00000682805.1:n.2850G>C
ENST00000682965.1:c.2781G>C	ENSP00000508229.1:p.Lys927Asn
ENST00000683093.1:n.2952G>C
ENST00000683136.1:c.2781G>C	ENSP00000507768.1:p.Lys927Asn
ENST00000683153.1:n.3009G>C
ENST00000683365.1:n.2955G>C
ENST00000683377.1:n.2853G>C
ENST00000683456.1:c.2784G>C	ENSP00000508318.1:p.Lys928Asn
ENST00000683522.1:n.2853G>C
ENST00000683562.1:c.*953G>C	ENSP00000508265.1:n.*953G>C
ENST00000683693.1:n.2850G>C
ENST00000683725.1:c.2784G>C	ENSP00000507496.1:p.Lys928Asn
ENST00000684010.1:n.2768G>C
ENST00000684157.1:n.2853G>C
ENST00000684253.1:n.2756G>C
ENST00000684288.1:c.*956G>C	ENSP00000507143.1:n.*956G>C
ENST00000684313.1:n.2285G>C
ENST00000684332.1:n.2926G>C
ENST00000684371.1:n.2959G>C
ENST00000684404.1:n.2850G>C
ENST00000684442.1:n.2853G>C
ENST00000684555.1:c.*996G>C	ENSP00000507705.1:n.*996G>C
ENST00000684571.1:c.2625G>C	ENSP00000506935.1:p.Lys875Asn
ENST00000684593.1:c.*2489G>C	ENSP00000507005.1:n.*2489G>C
ENST00000684711.1:c.*1180G>C	ENSP00000506841.1:n.*1180G>C
ENST00000302539.9:c.2787G>C	ENSP00000303960.4:p.Lys929Asn
ENST00000389817.8:c.2784G>C MANE Select	ENSP00000374467.4:p.Lys928Asn
ENST00000642271.1:c.2781G>C	ENSP00000493749.1:p.Lys927Asn
ENST00000642579.1:c.868G>C
ENST00000642611.1:n.2738G>C
ENST00000642902.1:c.2619G>C
ENST00000643260.1:c.2784G>C	ENSP00000494450.1:p.Lys928Asn
ENST00000643562.1:c.*760G>C	ENSP00000496124.1:n.*760G>C
ENST00000643925.1:c.828G>C
ENST00000644447.1:c.1140G>C	ENSP00000496282.1:p.Lys380Asn
ENST00000644484.1:c.*993G>C	ENSP00000493558.1:n.*993G>C
ENST00000644542.1:c.*2489G>C	ENSP00000495532.1:n.*2489G>C
ENST00000644675.1:c.*956G>C	ENSP00000494567.1:n.*956G>C
ENST00000644757.1:c.*1089G>C	ENSP00000495085.1:n.*1089G>C
ENST00000644772.1:c.2850G>C	ENSP00000494321.1:p.Lys950Asn
ENST00000645076.1:c.2036G>C
ENST00000645744.1:c.*1148G>C	ENSP00000494564.1:n.*1148G>C
ENST00000645760.1:c.3059G>C
ENST00000645884.1:c.2784G>C	ENSP00000495516.1:p.Lys928Asn
ENST00000646003.1:c.*840G>C	ENSP00000495259.1:n.*840G>C
ENST00000646207.1:c.*1148G>C	ENSP00000495025.1:n.*1148G>C
ENST00000646276.1:c.*1057G>C	ENSP00000496070.1:n.*1057G>C
ENST00000646592.1:c.2010G>C
ENST00000646902.1:c.2781G>C	ENSP00000494101.1:p.Lys927Asn
ENST00000646993.1:c.*1180G>C	ENSP00000493720.1:n.*1180G>C
ENST00000647013.1:c.2790G>C	ENSP00000496741.1:n.2790G>C
ENST00000647015.1:c.2535G>C	ENSP00000495389.1:p.Lys845Asn
ENST00000647086.1:c.*2514G>C	ENSP00000493677.1:n.*2514G>C
ENST00000647158.1:c.*925G>C	ENSP00000495744.1:n.*925G>C
ENST00000302539.8:c.2787G>C	ENSP00000303960.4:p.Lys929Asn
ENST00000389817.7:c.2784G>C	ENSP00000374467.3:p.Lys928Asn
ENST00000526921.5:n.468G>C
ENST00000527905.5:c.2754G>C	ENSP00000431653.1:p.Lys918Asn
ENST00000529967.5:n.453G>C
NM_000352.4:c.2784G>C	NP_000343.2:p.Lys928Asn
NM_001287174.1:c.2787G>C	NP_001274103.1:p.Lys929Asn
XM_011520331.1:c.2784G>C	XP_011518633.1:p.Lys928Asn
XM_011520332.1:c.2787G>C	XP_011518634.1:p.Lys929Asn
XM_011520333.1:c.1284G>C	XP_011518635.1:p.Lys428Asn
XM_011520334.1:c.2787G>C	XP_011518636.1:p.Lys929Asn
XR_930890.1:n.2850G>C
XR_930891.1:n.2850G>C
XR_930892.1:n.2850G>C
XR_930893.1:n.2847G>C
NM_001351295.1:c.2850G>C	NP_001338224.1:p.Lys950Asn
NM_001351296.1:c.2784G>C	NP_001338225.1:p.Lys928Asn
NM_001351297.1:c.2781G>C	NP_001338226.1:p.Lys927Asn
NR_147094.1:n.2853G>C
XM_017018197.2:c.2853G>C	XP_016873686.1:p.Lys951Asn
XM_017018199.1:c.2850G>C	XP_016873688.1:p.Lys950Asn
XM_017018201.2:c.2853G>C	XP_016873690.1:p.Lys951Asn
XM_017018202.1:c.1350G>C	XP_016873691.1:p.Lys450Asn
XM_017018204.1:c.741G>C	XP_016873693.1:p.Lys247Asn
XM_024448668.1:c.1152G>C	XP_024304436.1:p.Lys384Asn
XR_001747945.2:n.2925G>C
XR_001747946.2:n.2856G>C
XR_002957189.1:n.2925G>C
NM_000352.6:c.2784G>C MANE Select	NP_000343.2:p.Lys928Asn
NM_001287174.2:c.2787G>C	NP_001274103.1:p.Lys929Asn
NM_001351295.2:c.2850G>C	NP_001338224.1:p.Lys950Asn
NM_001351296.2:c.2784G>C	NP_001338225.1:p.Lys928Asn
NM_001351297.2:c.2781G>C	NP_001338226.1:p.Lys927Asn
NR_147094.2:n.2853G>C
NM_001287174.3:c.2787G>C	NP_001274103.1:p.Lys929Asn