Canonical Allele Identifier: CA379801650

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428233C>G (hg19) ; chr11:g.17406686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406686C>G , CM000673.2:g.17406686C>G	GRCh38
NC_000011.9:g.17428233C>G , CM000673.1:g.17428233C>G	GRCh37
NC_000011.8:g.17384809C>G	NCBI36
NG_008867.1:g.75217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2834G>C
ENST00000529967.6:n.1604G>C
ENST00000532220.2:n.997G>C
ENST00000642611.2:n.3334G>C
ENST00000645004.2:n.764G>C
ENST00000682051.1:n.3281G>C
ENST00000682110.1:n.3334G>C
ENST00000682140.1:c.3262G>C	ENSP00000507829.1:p.Gly1088Arg
ENST00000682185.1:n.4570G>C
ENST00000682204.1:c.*1403G>C	ENSP00000507094.1:n.*1403G>C
ENST00000682215.1:n.3331G>C
ENST00000682288.1:c.*1696G>C	ENSP00000507506.1:n.*1696G>C
ENST00000682442.1:n.3554G>C
ENST00000682528.1:n.3411G>C
ENST00000682673.1:n.3278G>C
ENST00000682805.1:n.3331G>C
ENST00000682965.1:c.3262G>C	ENSP00000508229.1:p.Gly1088Arg
ENST00000683093.1:n.3433G>C
ENST00000683136.1:c.3262G>C	ENSP00000507768.1:p.Gly1088Arg
ENST00000683153.1:n.3490G>C
ENST00000683365.1:n.3436G>C
ENST00000683377.1:n.3334G>C
ENST00000683456.1:c.*402G>C	ENSP00000508318.1:n.*402G>C
ENST00000683522.1:n.3334G>C
ENST00000683562.1:c.*1434G>C	ENSP00000508265.1:n.*1434G>C
ENST00000683693.1:n.3411G>C
ENST00000683725.1:c.3265G>C	ENSP00000507496.1:p.Gly1089Arg
ENST00000684010.1:n.3329G>C
ENST00000684157.1:n.3334G>C
ENST00000684253.1:n.3237G>C
ENST00000684288.1:c.*1437G>C	ENSP00000507143.1:n.*1437G>C
ENST00000684313.1:n.2766G>C
ENST00000684332.1:n.3407G>C
ENST00000684371.1:n.3440G>C
ENST00000684404.1:n.3377G>C
ENST00000684442.1:n.3334G>C
ENST00000684555.1:c.*1477G>C	ENSP00000507705.1:n.*1477G>C
ENST00000684571.1:c.3106G>C	ENSP00000506935.1:p.Gly1036Arg
ENST00000684593.1:c.*2970G>C	ENSP00000507005.1:n.*2970G>C
ENST00000684711.1:c.*1661G>C	ENSP00000506841.1:n.*1661G>C
ENST00000302539.9:c.3268G>C	ENSP00000303960.4:p.Gly1090Arg
ENST00000389817.8:c.3265G>C MANE Select	ENSP00000374467.4:p.Gly1089Arg
ENST00000642271.1:c.3262G>C	ENSP00000493749.1:p.Gly1088Arg
ENST00000642579.1:c.1349G>C
ENST00000642611.1:n.3219G>C
ENST00000642902.1:c.3047G>C
ENST00000643260.1:c.3265G>C	ENSP00000494450.1:p.Gly1089Arg
ENST00000643562.1:c.*1241G>C	ENSP00000496124.1:n.*1241G>C
ENST00000643925.1:c.1389G>C
ENST00000644447.1:c.1621G>C	ENSP00000496282.1:p.Gly541Arg
ENST00000644484.1:c.*1520G>C	ENSP00000493558.1:n.*1520G>C
ENST00000644542.1:c.*3069G>C	ENSP00000495532.1:n.*3069G>C
ENST00000644675.1:c.*1437G>C	ENSP00000494567.1:n.*1437G>C
ENST00000644757.1:c.*1550G>C	ENSP00000495085.1:n.*1550G>C
ENST00000644772.1:c.3331G>C	ENSP00000494321.1:p.Gly1111Arg
ENST00000645004.1:n.404G>C
ENST00000645076.1:c.2464G>C
ENST00000645417.1:c.431G>C
ENST00000645744.1:c.*1529G>C	ENSP00000494564.1:n.*1529G>C
ENST00000645760.1:c.3540G>C
ENST00000645884.1:c.*402G>C	ENSP00000495516.1:n.*402G>C
ENST00000646003.1:c.*1221G>C	ENSP00000495259.1:n.*1221G>C
ENST00000646207.1:c.*1732G>C	ENSP00000495025.1:n.*1732G>C
ENST00000646276.1:c.*1538G>C	ENSP00000496070.1:n.*1538G>C
ENST00000646592.1:c.2571G>C
ENST00000646902.1:c.3262G>C	ENSP00000494101.1:p.Gly1088Arg
ENST00000646993.1:c.*1661G>C	ENSP00000493720.1:n.*1661G>C
ENST00000647013.1:c.3271G>C	ENSP00000496741.1:n.3271G>C
ENST00000647015.1:c.3016G>C	ENSP00000495389.1:p.Gly1006Arg
ENST00000647086.1:c.*2995G>C	ENSP00000493677.1:n.*2995G>C
ENST00000647158.1:c.*1406G>C	ENSP00000495744.1:n.*1406G>C
ENST00000302539.8:c.3268G>C	ENSP00000303960.4:p.Gly1090Arg
ENST00000389817.7:c.3265G>C	ENSP00000374467.3:p.Gly1089Arg
ENST00000524561.1:n.397G>C
ENST00000526921.5:n.949G>C
ENST00000527905.5:c.*141G>C	ENSP00000431653.1:n.*141G>C
NM_000352.4:c.3265G>C	NP_000343.2:p.Gly1089Arg
NM_001287174.1:c.3268G>C	NP_001274103.1:p.Gly1090Arg
XM_011520331.1:c.3265G>C	XP_011518633.1:p.Gly1089Arg
XM_011520332.1:c.3268G>C	XP_011518634.1:p.Gly1090Arg
XM_011520333.1:c.1765G>C	XP_011518635.1:p.Gly589Arg
XR_930890.1:n.3331G>C
XR_930891.1:n.3331G>C
XR_930892.1:n.3231G>C
XR_930893.1:n.3228G>C
NM_001351295.1:c.3331G>C	NP_001338224.1:p.Gly1111Arg
NM_001351296.1:c.3265G>C	NP_001338225.1:p.Gly1089Arg
NM_001351297.1:c.3262G>C	NP_001338226.1:p.Gly1088Arg
NR_147094.1:n.3414G>C
XM_017018197.2:c.3334G>C	XP_016873686.1:p.Gly1112Arg
XM_017018199.1:c.3331G>C	XP_016873688.1:p.Gly1111Arg
XM_017018201.2:c.3334G>C	XP_016873690.1:p.Gly1112Arg
XM_017018202.1:c.1831G>C	XP_016873691.1:p.Gly611Arg
XM_017018204.1:c.1222G>C	XP_016873693.1:p.Gly408Arg
XM_024448668.1:c.1633G>C	XP_024304436.1:p.Gly545Arg
XR_001747945.2:n.3406G>C
XR_001747946.2:n.3337G>C
XR_002957189.1:n.3486G>C
NM_000352.6:c.3265G>C MANE Select	NP_000343.2:p.Gly1089Arg
NM_001287174.2:c.3268G>C	NP_001274103.1:p.Gly1090Arg
NM_001351295.2:c.3331G>C	NP_001338224.1:p.Gly1111Arg
NM_001351296.2:c.3265G>C	NP_001338225.1:p.Gly1089Arg
NM_001351297.2:c.3262G>C	NP_001338226.1:p.Gly1088Arg
NR_147094.2:n.3414G>C
NM_001287174.3:c.3268G>C	NP_001274103.1:p.Gly1090Arg