Canonical Allele Identifier: CA379801322

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428199A>C (hg19) ; chr11:g.17406652A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406652A>C , CM000673.2:g.17406652A>C	GRCh38
NC_000011.9:g.17428199A>C , CM000673.1:g.17428199A>C	GRCh37
NC_000011.8:g.17384775A>C	NCBI36
NG_008867.1:g.75251T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2868T>G
ENST00000529967.6:n.1638T>G
ENST00000532220.2:n.1031T>G
ENST00000642611.2:n.3368T>G
ENST00000645004.2:n.798T>G
ENST00000682051.1:n.3315T>G
ENST00000682110.1:n.3368T>G
ENST00000682140.1:c.3296T>G	ENSP00000507829.1:p.Leu1099Arg
ENST00000682185.1:n.4604T>G
ENST00000682204.1:c.*1437T>G	ENSP00000507094.1:n.*1437T>G
ENST00000682215.1:n.3365T>G
ENST00000682288.1:c.*1730T>G	ENSP00000507506.1:n.*1730T>G
ENST00000682442.1:n.3588T>G
ENST00000682528.1:n.3445T>G
ENST00000682673.1:n.3312T>G
ENST00000682805.1:n.3365T>G
ENST00000682965.1:c.3296T>G	ENSP00000508229.1:p.Leu1099Arg
ENST00000683093.1:n.3467T>G
ENST00000683136.1:c.3296T>G	ENSP00000507768.1:p.Leu1099Arg
ENST00000683153.1:n.3524T>G
ENST00000683365.1:n.3470T>G
ENST00000683377.1:n.3368T>G
ENST00000683456.1:c.*436T>G	ENSP00000508318.1:n.*436T>G
ENST00000683522.1:n.3368T>G
ENST00000683562.1:c.*1468T>G	ENSP00000508265.1:n.*1468T>G
ENST00000683693.1:n.3445T>G
ENST00000683725.1:c.3299T>G	ENSP00000507496.1:p.Leu1100Arg
ENST00000684010.1:n.3363T>G
ENST00000684157.1:n.3368T>G
ENST00000684253.1:n.3271T>G
ENST00000684288.1:c.*1471T>G	ENSP00000507143.1:n.*1471T>G
ENST00000684313.1:n.2800T>G
ENST00000684332.1:n.3441T>G
ENST00000684371.1:n.3474T>G
ENST00000684404.1:n.3411T>G
ENST00000684442.1:n.3368T>G
ENST00000684555.1:c.*1511T>G	ENSP00000507705.1:n.*1511T>G
ENST00000684571.1:c.3140T>G	ENSP00000506935.1:p.Leu1047Arg
ENST00000684593.1:c.*3004T>G	ENSP00000507005.1:n.*3004T>G
ENST00000684711.1:c.*1695T>G	ENSP00000506841.1:n.*1695T>G
ENST00000302539.9:c.3302T>G	ENSP00000303960.4:p.Leu1101Arg
ENST00000389817.8:c.3299T>G MANE Select	ENSP00000374467.4:p.Leu1100Arg
ENST00000642271.1:c.3296T>G	ENSP00000493749.1:p.Leu1099Arg
ENST00000642579.1:c.1383T>G
ENST00000642611.1:n.3253T>G
ENST00000642902.1:c.3081T>G
ENST00000643260.1:c.3299T>G	ENSP00000494450.1:p.Leu1100Arg
ENST00000643562.1:c.*1275T>G	ENSP00000496124.1:n.*1275T>G
ENST00000643925.1:c.1423T>G
ENST00000644447.1:c.1655T>G	ENSP00000496282.1:p.Leu552Arg
ENST00000644484.1:c.*1554T>G	ENSP00000493558.1:n.*1554T>G
ENST00000644542.1:c.*3103T>G	ENSP00000495532.1:n.*3103T>G
ENST00000644675.1:c.*1471T>G	ENSP00000494567.1:n.*1471T>G
ENST00000644757.1:c.*1584T>G	ENSP00000495085.1:n.*1584T>G
ENST00000644772.1:c.3365T>G	ENSP00000494321.1:p.Leu1122Arg
ENST00000645004.1:n.438T>G
ENST00000645076.1:c.2498T>G
ENST00000645417.1:c.465T>G
ENST00000645744.1:c.*1563T>G	ENSP00000494564.1:n.*1563T>G
ENST00000645760.1:c.3574T>G
ENST00000645884.1:c.*436T>G	ENSP00000495516.1:n.*436T>G
ENST00000646003.1:c.*1255T>G	ENSP00000495259.1:n.*1255T>G
ENST00000646207.1:c.*1766T>G	ENSP00000495025.1:n.*1766T>G
ENST00000646276.1:c.*1572T>G	ENSP00000496070.1:n.*1572T>G
ENST00000646592.1:c.2605T>G
ENST00000646902.1:c.3296T>G	ENSP00000494101.1:p.Leu1099Arg
ENST00000646993.1:c.*1695T>G	ENSP00000493720.1:n.*1695T>G
ENST00000647013.1:c.3305T>G	ENSP00000496741.1:n.3305T>G
ENST00000647015.1:c.3050T>G	ENSP00000495389.1:p.Leu1017Arg
ENST00000647086.1:c.*3029T>G	ENSP00000493677.1:n.*3029T>G
ENST00000647158.1:c.*1440T>G	ENSP00000495744.1:n.*1440T>G
ENST00000302539.8:c.3302T>G	ENSP00000303960.4:p.Leu1101Arg
ENST00000389817.7:c.3299T>G	ENSP00000374467.3:p.Leu1100Arg
ENST00000524561.1:n.431T>G
ENST00000527905.5:c.*175T>G	ENSP00000431653.1:n.*175T>G
NM_000352.4:c.3299T>G	NP_000343.2:p.Leu1100Arg
NM_001287174.1:c.3302T>G	NP_001274103.1:p.Leu1101Arg
XM_011520331.1:c.3299T>G	XP_011518633.1:p.Leu1100Arg
XM_011520332.1:c.3302T>G	XP_011518634.1:p.Leu1101Arg
XM_011520333.1:c.1799T>G	XP_011518635.1:p.Leu600Arg
XR_930890.1:n.3365T>G
XR_930891.1:n.3365T>G
XR_930892.1:n.3265T>G
XR_930893.1:n.3262T>G
NM_001351295.1:c.3365T>G	NP_001338224.1:p.Leu1122Arg
NM_001351296.1:c.3299T>G	NP_001338225.1:p.Leu1100Arg
NM_001351297.1:c.3296T>G	NP_001338226.1:p.Leu1099Arg
NR_147094.1:n.3448T>G
XM_017018197.2:c.3368T>G	XP_016873686.1:p.Leu1123Arg
XM_017018199.1:c.3365T>G	XP_016873688.1:p.Leu1122Arg
XM_017018201.2:c.3368T>G	XP_016873690.1:p.Leu1123Arg
XM_017018202.1:c.1865T>G	XP_016873691.1:p.Leu622Arg
XM_017018204.1:c.1256T>G	XP_016873693.1:p.Leu419Arg
XM_024448668.1:c.1667T>G	XP_024304436.1:p.Leu556Arg
XR_001747945.2:n.3440T>G
XR_001747946.2:n.3371T>G
XR_002957189.1:n.3520T>G
NM_000352.6:c.3299T>G MANE Select	NP_000343.2:p.Leu1100Arg
NM_001287174.2:c.3302T>G	NP_001274103.1:p.Leu1101Arg
NM_001351295.2:c.3365T>G	NP_001338224.1:p.Leu1122Arg
NM_001351296.2:c.3299T>G	NP_001338225.1:p.Leu1100Arg
NM_001351297.2:c.3296T>G	NP_001338226.1:p.Leu1099Arg
NR_147094.2:n.3448T>G
NM_001287174.3:c.3302T>G	NP_001274103.1:p.Leu1101Arg