Canonical Allele Identifier: CA473300560
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17429990G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17408443G>C , CM000673.2:g.17408443G>C GRCh38
NC_000011.9:g.17429990G>C , CM000673.1:g.17429990G>C GRCh37
NC_000011.8:g.17386566G>C NCBI36
NG_008867.1:g.73460C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2438C>G
ENST00000529967.6:n.1028C>G
ENST00000532220.2:n.501C>G
ENST00000642611.2:n.2838C>G
ENST00000682051.1:n.2785C>G
ENST00000682110.1:n.2838C>G
ENST00000682140.1:c.2766C>G ENSP00000507829.1:p.Leu922=
ENST00000682185.1:n.4074C>G
ENST00000682204.1:c.*907C>G ENSP00000507094.1:n.*907C>G
ENST00000682215.1:n.2835C>G
ENST00000682288.1:c.*1200C>G ENSP00000507506.1:n.*1200C>G
ENST00000682442.1:n.2959C>G
ENST00000682528.1:n.2835C>G
ENST00000682673.1:n.2782C>G
ENST00000682805.1:n.2835C>G
ENST00000682965.1:c.2766C>G ENSP00000508229.1:p.Leu922=
ENST00000683093.1:n.2937C>G
ENST00000683136.1:c.2766C>G ENSP00000507768.1:p.Leu922=
ENST00000683153.1:n.2994C>G
ENST00000683365.1:n.2940C>G
ENST00000683377.1:n.2838C>G
ENST00000683456.1:c.2769C>G ENSP00000508318.1:p.Leu923=
ENST00000683522.1:n.2838C>G
ENST00000683562.1:c.*938C>G ENSP00000508265.1:n.*938C>G
ENST00000683693.1:n.2835C>G
ENST00000683725.1:c.2769C>G ENSP00000507496.1:p.Leu923=
ENST00000684010.1:n.2753C>G
ENST00000684157.1:n.2838C>G
ENST00000684253.1:n.2741C>G
ENST00000684288.1:c.*941C>G ENSP00000507143.1:n.*941C>G
ENST00000684313.1:n.2270C>G
ENST00000684332.1:n.2911C>G
ENST00000684371.1:n.2944C>G
ENST00000684404.1:n.2835C>G
ENST00000684442.1:n.2838C>G
ENST00000684555.1:c.*981C>G ENSP00000507705.1:n.*981C>G
ENST00000684571.1:c.2610C>G ENSP00000506935.1:p.Leu870=
ENST00000684593.1:c.*2474C>G ENSP00000507005.1:n.*2474C>G
ENST00000684711.1:c.*1165C>G ENSP00000506841.1:n.*1165C>G
ENST00000302539.9:c.2772C>G ENSP00000303960.4:p.Leu924=
ENST00000389817.8:c.2769C>G MANE Select ENSP00000374467.4:p.Leu923=
ENST00000642271.1:c.2766C>G ENSP00000493749.1:p.Leu922=
ENST00000642579.1:c.853C>G
ENST00000642611.1:n.2723C>G
ENST00000642902.1:c.2604C>G
ENST00000643260.1:c.2769C>G ENSP00000494450.1:p.Leu923=
ENST00000643562.1:c.*745C>G ENSP00000496124.1:n.*745C>G
ENST00000643925.1:c.813C>G
ENST00000644447.1:c.1125C>G ENSP00000496282.1:p.Leu375=
ENST00000644472.1:c.*1130C>G ENSP00000495378.1:n.*1130C>G
ENST00000644484.1:c.*978C>G ENSP00000493558.1:n.*978C>G
ENST00000644542.1:c.*2474C>G ENSP00000495532.1:n.*2474C>G
ENST00000644675.1:c.*941C>G ENSP00000494567.1:n.*941C>G
ENST00000644757.1:c.*1074C>G ENSP00000495085.1:n.*1074C>G
ENST00000644772.1:c.2835C>G ENSP00000494321.1:p.Leu945=
ENST00000645076.1:c.2021C>G
ENST00000645744.1:c.*1133C>G ENSP00000494564.1:n.*1133C>G
ENST00000645760.1:c.3044C>G
ENST00000645884.1:c.2769C>G ENSP00000495516.1:p.Leu923=
ENST00000646003.1:c.*825C>G ENSP00000495259.1:n.*825C>G
ENST00000646207.1:c.*1133C>G ENSP00000495025.1:n.*1133C>G
ENST00000646276.1:c.*1042C>G ENSP00000496070.1:n.*1042C>G
ENST00000646592.1:c.1995C>G
ENST00000646902.1:c.2766C>G ENSP00000494101.1:p.Leu922=
ENST00000646993.1:c.*1165C>G ENSP00000493720.1:n.*1165C>G
ENST00000647013.1:c.2775C>G ENSP00000496741.1:n.2775C>G
ENST00000647015.1:c.2520C>G ENSP00000495389.1:p.Leu840=
ENST00000647086.1:c.*2499C>G ENSP00000493677.1:n.*2499C>G
ENST00000647158.1:c.*910C>G ENSP00000495744.1:n.*910C>G
ENST00000302539.8:c.2772C>G ENSP00000303960.4:p.Leu924=
ENST00000389817.7:c.2769C>G ENSP00000374467.3:p.Leu923=
ENST00000526921.5:n.453C>G
ENST00000527905.5:c.2739C>G ENSP00000431653.1:p.Leu913=
ENST00000529967.5:n.438C>G
NM_000352.4:c.2769C>G NP_000343.2:p.Leu923=
NM_001287174.1:c.2772C>G NP_001274103.1:p.Leu924=
XM_011520331.1:c.2769C>G XP_011518633.1:p.Leu923=
XM_011520332.1:c.2772C>G XP_011518634.1:p.Leu924=
XM_011520333.1:c.1269C>G XP_011518635.1:p.Leu423=
XM_011520334.1:c.2772C>G XP_011518636.1:p.Leu924=
XR_930890.1:n.2835C>G
XR_930891.1:n.2835C>G
XR_930892.1:n.2835C>G
XR_930893.1:n.2832C>G
NM_001351295.1:c.2835C>G NP_001338224.1:p.Leu945=
NM_001351296.1:c.2769C>G NP_001338225.1:p.Leu923=
NM_001351297.1:c.2766C>G NP_001338226.1:p.Leu922=
NR_147094.1:n.2838C>G
XM_017018197.2:c.2838C>G XP_016873686.1:p.Leu946=
XM_017018199.1:c.2835C>G XP_016873688.1:p.Leu945=
XM_017018201.2:c.2838C>G XP_016873690.1:p.Leu946=
XM_017018202.1:c.1335C>G XP_016873691.1:p.Leu445=
XM_017018204.1:c.726C>G XP_016873693.1:p.Leu242=
XM_024448668.1:c.1137C>G XP_024304436.1:p.Leu379=
XR_001747945.2:n.2910C>G
XR_001747946.2:n.2841C>G
XR_002957189.1:n.2910C>G
NM_000352.6:c.2769C>G MANE Select NP_000343.2:p.Leu923=
NM_001287174.2:c.2772C>G NP_001274103.1:p.Leu924=
NM_001351295.2:c.2835C>G NP_001338224.1:p.Leu945=
NM_001351296.2:c.2769C>G NP_001338225.1:p.Leu923=
NM_001351297.2:c.2766C>G NP_001338226.1:p.Leu922=
NR_147094.2:n.2838C>G
NM_001287174.3:c.2772C>G NP_001274103.1:p.Leu924=