Canonical Allele Identifier: CA379804948

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429970A>C (hg19) ; chr11:g.17408423A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408423A>C , CM000673.2:g.17408423A>C	GRCh38
NC_000011.9:g.17429970A>C , CM000673.1:g.17429970A>C	GRCh37
NC_000011.8:g.17386546A>C	NCBI36
NG_008867.1:g.73480T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2458T>G
ENST00000529967.6:n.1048T>G
ENST00000532220.2:n.521T>G
ENST00000642611.2:n.2858T>G
ENST00000682051.1:n.2805T>G
ENST00000682110.1:n.2858T>G
ENST00000682140.1:c.2786T>G	ENSP00000507829.1:p.Leu929Arg
ENST00000682185.1:n.4094T>G
ENST00000682204.1:c.*927T>G	ENSP00000507094.1:n.*927T>G
ENST00000682215.1:n.2855T>G
ENST00000682288.1:c.*1220T>G	ENSP00000507506.1:n.*1220T>G
ENST00000682442.1:n.2979T>G
ENST00000682528.1:n.2855T>G
ENST00000682673.1:n.2802T>G
ENST00000682805.1:n.2855T>G
ENST00000682965.1:c.2786T>G	ENSP00000508229.1:p.Leu929Arg
ENST00000683093.1:n.2957T>G
ENST00000683136.1:c.2786T>G	ENSP00000507768.1:p.Leu929Arg
ENST00000683153.1:n.3014T>G
ENST00000683365.1:n.2960T>G
ENST00000683377.1:n.2858T>G
ENST00000683456.1:c.2789T>G	ENSP00000508318.1:p.Leu930Arg
ENST00000683522.1:n.2858T>G
ENST00000683562.1:c.*958T>G	ENSP00000508265.1:n.*958T>G
ENST00000683693.1:n.2855T>G
ENST00000683725.1:c.2789T>G	ENSP00000507496.1:p.Leu930Arg
ENST00000684010.1:n.2773T>G
ENST00000684157.1:n.2858T>G
ENST00000684253.1:n.2761T>G
ENST00000684288.1:c.*961T>G	ENSP00000507143.1:n.*961T>G
ENST00000684313.1:n.2290T>G
ENST00000684332.1:n.2931T>G
ENST00000684371.1:n.2964T>G
ENST00000684404.1:n.2855T>G
ENST00000684442.1:n.2858T>G
ENST00000684555.1:c.*1001T>G	ENSP00000507705.1:n.*1001T>G
ENST00000684571.1:c.2630T>G	ENSP00000506935.1:p.Leu877Arg
ENST00000684593.1:c.*2494T>G	ENSP00000507005.1:n.*2494T>G
ENST00000684711.1:c.*1185T>G	ENSP00000506841.1:n.*1185T>G
ENST00000302539.9:c.2792T>G	ENSP00000303960.4:p.Leu931Arg
ENST00000389817.8:c.2789T>G MANE Select	ENSP00000374467.4:p.Leu930Arg
ENST00000642271.1:c.2786T>G	ENSP00000493749.1:p.Leu929Arg
ENST00000642579.1:c.873T>G
ENST00000642611.1:n.2743T>G
ENST00000642902.1:c.2624T>G
ENST00000643260.1:c.2789T>G	ENSP00000494450.1:p.Leu930Arg
ENST00000643562.1:c.*765T>G	ENSP00000496124.1:n.*765T>G
ENST00000643925.1:c.833T>G
ENST00000644447.1:c.1145T>G	ENSP00000496282.1:p.Leu382Arg
ENST00000644484.1:c.*998T>G	ENSP00000493558.1:n.*998T>G
ENST00000644542.1:c.*2494T>G	ENSP00000495532.1:n.*2494T>G
ENST00000644675.1:c.*961T>G	ENSP00000494567.1:n.*961T>G
ENST00000644757.1:c.*1094T>G	ENSP00000495085.1:n.*1094T>G
ENST00000644772.1:c.2855T>G	ENSP00000494321.1:p.Leu952Arg
ENST00000645076.1:c.2041T>G
ENST00000645744.1:c.*1153T>G	ENSP00000494564.1:n.*1153T>G
ENST00000645760.1:c.3064T>G
ENST00000645884.1:c.2789T>G	ENSP00000495516.1:p.Leu930Arg
ENST00000646003.1:c.*845T>G	ENSP00000495259.1:n.*845T>G
ENST00000646207.1:c.*1153T>G	ENSP00000495025.1:n.*1153T>G
ENST00000646276.1:c.*1062T>G	ENSP00000496070.1:n.*1062T>G
ENST00000646592.1:c.2015T>G
ENST00000646902.1:c.2786T>G	ENSP00000494101.1:p.Leu929Arg
ENST00000646993.1:c.*1185T>G	ENSP00000493720.1:n.*1185T>G
ENST00000647013.1:c.2795T>G	ENSP00000496741.1:n.2795T>G
ENST00000647015.1:c.2540T>G	ENSP00000495389.1:p.Leu847Arg
ENST00000647086.1:c.*2519T>G	ENSP00000493677.1:n.*2519T>G
ENST00000647158.1:c.*930T>G	ENSP00000495744.1:n.*930T>G
ENST00000302539.8:c.2792T>G	ENSP00000303960.4:p.Leu931Arg
ENST00000389817.7:c.2789T>G	ENSP00000374467.3:p.Leu930Arg
ENST00000526921.5:n.473T>G
ENST00000527905.5:c.2759T>G	ENSP00000431653.1:p.Leu920Arg
ENST00000529967.5:n.458T>G
NM_000352.4:c.2789T>G	NP_000343.2:p.Leu930Arg
NM_001287174.1:c.2792T>G	NP_001274103.1:p.Leu931Arg
XM_011520331.1:c.2789T>G	XP_011518633.1:p.Leu930Arg
XM_011520332.1:c.2792T>G	XP_011518634.1:p.Leu931Arg
XM_011520333.1:c.1289T>G	XP_011518635.1:p.Leu430Arg
XM_011520334.1:c.2792T>G	XP_011518636.1:p.Leu931Arg
XR_930890.1:n.2855T>G
XR_930891.1:n.2855T>G
XR_930892.1:n.2855T>G
XR_930893.1:n.2852T>G
NM_001351295.1:c.2855T>G	NP_001338224.1:p.Leu952Arg
NM_001351296.1:c.2789T>G	NP_001338225.1:p.Leu930Arg
NM_001351297.1:c.2786T>G	NP_001338226.1:p.Leu929Arg
NR_147094.1:n.2858T>G
XM_017018197.2:c.2858T>G	XP_016873686.1:p.Leu953Arg
XM_017018199.1:c.2855T>G	XP_016873688.1:p.Leu952Arg
XM_017018201.2:c.2858T>G	XP_016873690.1:p.Leu953Arg
XM_017018202.1:c.1355T>G	XP_016873691.1:p.Leu452Arg
XM_017018204.1:c.746T>G	XP_016873693.1:p.Leu249Arg
XM_024448668.1:c.1157T>G	XP_024304436.1:p.Leu386Arg
XR_001747945.2:n.2930T>G
XR_001747946.2:n.2861T>G
XR_002957189.1:n.2930T>G
NM_000352.6:c.2789T>G MANE Select	NP_000343.2:p.Leu930Arg
NM_001287174.2:c.2792T>G	NP_001274103.1:p.Leu931Arg
NM_001351295.2:c.2855T>G	NP_001338224.1:p.Leu952Arg
NM_001351296.2:c.2789T>G	NP_001338225.1:p.Leu930Arg
NM_001351297.2:c.2786T>G	NP_001338226.1:p.Leu929Arg
NR_147094.2:n.2858T>G
NM_001287174.3:c.2792T>G	NP_001274103.1:p.Leu931Arg