Canonical Allele Identifier: CA379802987

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428325A>T (hg19) ; chr11:g.17406778A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406778A>T , CM000673.2:g.17406778A>T	GRCh38
NC_000011.9:g.17428325A>T , CM000673.1:g.17428325A>T	GRCh37
NC_000011.8:g.17384901A>T	NCBI36
NG_008867.1:g.75125T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2742T>A
ENST00000529967.6:n.1512T>A
ENST00000532220.2:n.905T>A
ENST00000642611.2:n.3242T>A
ENST00000645004.2:n.672T>A
ENST00000682051.1:n.3189T>A
ENST00000682110.1:n.3242T>A
ENST00000682140.1:c.3170T>A	ENSP00000507829.1:p.Leu1057His
ENST00000682185.1:n.4478T>A
ENST00000682204.1:c.*1311T>A	ENSP00000507094.1:n.*1311T>A
ENST00000682215.1:n.3239T>A
ENST00000682288.1:c.*1604T>A	ENSP00000507506.1:n.*1604T>A
ENST00000682442.1:n.3462T>A
ENST00000682528.1:n.3319T>A
ENST00000682673.1:n.3186T>A
ENST00000682805.1:n.3239T>A
ENST00000682965.1:c.3170T>A	ENSP00000508229.1:p.Leu1057His
ENST00000683093.1:n.3341T>A
ENST00000683136.1:c.3170T>A	ENSP00000507768.1:p.Leu1057His
ENST00000683153.1:n.3398T>A
ENST00000683365.1:n.3344T>A
ENST00000683377.1:n.3242T>A
ENST00000683456.1:c.*310T>A	ENSP00000508318.1:n.*310T>A
ENST00000683522.1:n.3242T>A
ENST00000683562.1:c.*1342T>A	ENSP00000508265.1:n.*1342T>A
ENST00000683693.1:n.3319T>A
ENST00000683725.1:c.3173T>A	ENSP00000507496.1:p.Leu1058His
ENST00000684010.1:n.3237T>A
ENST00000684157.1:n.3242T>A
ENST00000684253.1:n.3145T>A
ENST00000684288.1:c.*1345T>A	ENSP00000507143.1:n.*1345T>A
ENST00000684313.1:n.2674T>A
ENST00000684332.1:n.3315T>A
ENST00000684371.1:n.3348T>A
ENST00000684404.1:n.3285T>A
ENST00000684442.1:n.3242T>A
ENST00000684555.1:c.*1385T>A	ENSP00000507705.1:n.*1385T>A
ENST00000684571.1:c.3014T>A	ENSP00000506935.1:p.Leu1005His
ENST00000684593.1:c.*2878T>A	ENSP00000507005.1:n.*2878T>A
ENST00000684711.1:c.*1569T>A	ENSP00000506841.1:n.*1569T>A
ENST00000302539.9:c.3176T>A	ENSP00000303960.4:p.Leu1059His
ENST00000389817.8:c.3173T>A MANE Select	ENSP00000374467.4:p.Leu1058His
ENST00000642271.1:c.3170T>A	ENSP00000493749.1:p.Leu1057His
ENST00000642579.1:c.1257T>A
ENST00000642611.1:n.3127T>A
ENST00000642902.1:c.2955T>A
ENST00000643260.1:c.3173T>A	ENSP00000494450.1:p.Leu1058His
ENST00000643562.1:c.*1149T>A	ENSP00000496124.1:n.*1149T>A
ENST00000643925.1:c.1297T>A
ENST00000644447.1:c.1529T>A	ENSP00000496282.1:p.Leu510His
ENST00000644484.1:c.*1428T>A	ENSP00000493558.1:n.*1428T>A
ENST00000644542.1:c.*2977T>A	ENSP00000495532.1:n.*2977T>A
ENST00000644675.1:c.*1345T>A	ENSP00000494567.1:n.*1345T>A
ENST00000644757.1:c.*1458T>A	ENSP00000495085.1:n.*1458T>A
ENST00000644772.1:c.3239T>A	ENSP00000494321.1:p.Leu1080His
ENST00000645004.1:n.312T>A
ENST00000645076.1:c.2372T>A
ENST00000645417.1:c.339T>A
ENST00000645744.1:c.*1437T>A	ENSP00000494564.1:n.*1437T>A
ENST00000645760.1:c.3448T>A
ENST00000645884.1:c.*310T>A	ENSP00000495516.1:n.*310T>A
ENST00000646003.1:c.*1129T>A	ENSP00000495259.1:n.*1129T>A
ENST00000646207.1:c.*1640T>A	ENSP00000495025.1:n.*1640T>A
ENST00000646276.1:c.*1446T>A	ENSP00000496070.1:n.*1446T>A
ENST00000646592.1:c.2479T>A
ENST00000646902.1:c.3170T>A	ENSP00000494101.1:p.Leu1057His
ENST00000646993.1:c.*1569T>A	ENSP00000493720.1:n.*1569T>A
ENST00000647013.1:c.3179T>A	ENSP00000496741.1:n.3179T>A
ENST00000647015.1:c.2924T>A	ENSP00000495389.1:p.Leu975His
ENST00000647086.1:c.*2903T>A	ENSP00000493677.1:n.*2903T>A
ENST00000647158.1:c.*1314T>A	ENSP00000495744.1:n.*1314T>A
ENST00000302539.8:c.3176T>A	ENSP00000303960.4:p.Leu1059His
ENST00000389817.7:c.3173T>A	ENSP00000374467.3:p.Leu1058His
ENST00000524561.1:n.305T>A
ENST00000526921.5:n.857T>A
ENST00000527905.5:c.*49T>A	ENSP00000431653.1:n.*49T>A
NM_000352.4:c.3173T>A	NP_000343.2:p.Leu1058His
NM_001287174.1:c.3176T>A	NP_001274103.1:p.Leu1059His
XM_011520331.1:c.3173T>A	XP_011518633.1:p.Leu1058His
XM_011520332.1:c.3176T>A	XP_011518634.1:p.Leu1059His
XM_011520333.1:c.1673T>A	XP_011518635.1:p.Leu558His
XR_930890.1:n.3239T>A
XR_930891.1:n.3239T>A
XR_930892.1:n.3139T>A
XR_930893.1:n.3136T>A
NM_001351295.1:c.3239T>A	NP_001338224.1:p.Leu1080His
NM_001351296.1:c.3173T>A	NP_001338225.1:p.Leu1058His
NM_001351297.1:c.3170T>A	NP_001338226.1:p.Leu1057His
NR_147094.1:n.3322T>A
XM_017018197.2:c.3242T>A	XP_016873686.1:p.Leu1081His
XM_017018199.1:c.3239T>A	XP_016873688.1:p.Leu1080His
XM_017018201.2:c.3242T>A	XP_016873690.1:p.Leu1081His
XM_017018202.1:c.1739T>A	XP_016873691.1:p.Leu580His
XM_017018204.1:c.1130T>A	XP_016873693.1:p.Leu377His
XM_024448668.1:c.1541T>A	XP_024304436.1:p.Leu514His
XR_001747945.2:n.3314T>A
XR_001747946.2:n.3245T>A
XR_002957189.1:n.3394T>A
NM_000352.6:c.3173T>A MANE Select	NP_000343.2:p.Leu1058His
NM_001287174.2:c.3176T>A	NP_001274103.1:p.Leu1059His
NM_001351295.2:c.3239T>A	NP_001338224.1:p.Leu1080His
NM_001351296.2:c.3173T>A	NP_001338225.1:p.Leu1058His
NM_001351297.2:c.3170T>A	NP_001338226.1:p.Leu1057His
NR_147094.2:n.3322T>A
NM_001287174.3:c.3176T>A	NP_001274103.1:p.Leu1059His