Canonical Allele Identifier: CA379801070

Gene: ABCC8

Linked Data

• dbSNP Id: rs1471864071
• gnomAD v2: 11-17428171-C-T
• MyVariant Identifiers: chr11:g.17428171C>T (hg19) ; chr11:g.17406624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406624C>T , CM000673.2:g.17406624C>T	GRCh38
NC_000011.9:g.17428171C>T , CM000673.1:g.17428171C>T	GRCh37
NC_000011.8:g.17384747C>T	NCBI36
NG_008867.1:g.75279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2896G>A
ENST00000529967.6:n.1666G>A
ENST00000532220.2:n.1059G>A
ENST00000642611.2:n.3396G>A
ENST00000645004.2:n.826G>A
ENST00000682051.1:n.3343G>A
ENST00000682110.1:n.3396G>A
ENST00000682140.1:c.3324G>A	ENSP00000507829.1:p.Met1108Ile
ENST00000682185.1:n.4632G>A
ENST00000682204.1:c.*1465G>A	ENSP00000507094.1:n.*1465G>A
ENST00000682215.1:n.3393G>A
ENST00000682288.1:c.*1758G>A	ENSP00000507506.1:n.*1758G>A
ENST00000682442.1:n.3616G>A
ENST00000682528.1:n.3473G>A
ENST00000682673.1:n.3340G>A
ENST00000682805.1:n.3393G>A
ENST00000682965.1:c.3324G>A	ENSP00000508229.1:p.Met1108Ile
ENST00000683093.1:n.3495G>A
ENST00000683136.1:c.3324G>A	ENSP00000507768.1:p.Met1108Ile
ENST00000683153.1:n.3552G>A
ENST00000683365.1:n.3498G>A
ENST00000683377.1:n.3396G>A
ENST00000683456.1:c.*464G>A	ENSP00000508318.1:n.*464G>A
ENST00000683522.1:n.3396G>A
ENST00000683562.1:c.*1496G>A	ENSP00000508265.1:n.*1496G>A
ENST00000683693.1:n.3473G>A
ENST00000683725.1:c.3327G>A	ENSP00000507496.1:p.Met1109Ile
ENST00000684010.1:n.3391G>A
ENST00000684157.1:n.3396G>A
ENST00000684253.1:n.3299G>A
ENST00000684288.1:c.*1499G>A	ENSP00000507143.1:n.*1499G>A
ENST00000684313.1:n.2828G>A
ENST00000684332.1:n.3469G>A
ENST00000684371.1:n.3502G>A
ENST00000684404.1:n.3439G>A
ENST00000684442.1:n.3396G>A
ENST00000684555.1:c.*1539G>A	ENSP00000507705.1:n.*1539G>A
ENST00000684571.1:c.3168G>A	ENSP00000506935.1:p.Met1056Ile
ENST00000684593.1:c.*3032G>A	ENSP00000507005.1:n.*3032G>A
ENST00000684711.1:c.*1723G>A	ENSP00000506841.1:n.*1723G>A
ENST00000302539.9:c.3330G>A	ENSP00000303960.4:p.Met1110Ile
ENST00000389817.8:c.3327G>A MANE Select	ENSP00000374467.4:p.Met1109Ile
ENST00000642271.1:c.3324G>A	ENSP00000493749.1:p.Met1108Ile
ENST00000642579.1:c.1411G>A
ENST00000642611.1:n.3281G>A
ENST00000642902.1:c.3109G>A
ENST00000643260.1:c.3327G>A	ENSP00000494450.1:p.Met1109Ile
ENST00000643562.1:c.*1303G>A	ENSP00000496124.1:n.*1303G>A
ENST00000643925.1:c.1451G>A
ENST00000644447.1:c.1683G>A	ENSP00000496282.1:p.Met561Ile
ENST00000644484.1:c.*1582G>A	ENSP00000493558.1:n.*1582G>A
ENST00000644542.1:c.*3131G>A	ENSP00000495532.1:n.*3131G>A
ENST00000644675.1:c.*1499G>A	ENSP00000494567.1:n.*1499G>A
ENST00000644757.1:c.*1612G>A	ENSP00000495085.1:n.*1612G>A
ENST00000644772.1:c.3393G>A	ENSP00000494321.1:p.Met1131Ile
ENST00000645004.1:n.466G>A
ENST00000645076.1:c.2526G>A
ENST00000645417.1:c.493G>A
ENST00000645744.1:c.*1591G>A	ENSP00000494564.1:n.*1591G>A
ENST00000645760.1:c.3602G>A
ENST00000645884.1:c.*464G>A	ENSP00000495516.1:n.*464G>A
ENST00000646003.1:c.*1283G>A	ENSP00000495259.1:n.*1283G>A
ENST00000646207.1:c.*1794G>A	ENSP00000495025.1:n.*1794G>A
ENST00000646276.1:c.*1600G>A	ENSP00000496070.1:n.*1600G>A
ENST00000646592.1:c.2633G>A
ENST00000646902.1:c.3324G>A	ENSP00000494101.1:p.Met1108Ile
ENST00000646993.1:c.*1723G>A	ENSP00000493720.1:n.*1723G>A
ENST00000647013.1:c.3333G>A	ENSP00000496741.1:n.3333G>A
ENST00000647015.1:c.3078G>A	ENSP00000495389.1:p.Met1026Ile
ENST00000647086.1:c.*3057G>A	ENSP00000493677.1:n.*3057G>A
ENST00000647158.1:c.*1468G>A	ENSP00000495744.1:n.*1468G>A
ENST00000302539.8:c.3330G>A	ENSP00000303960.4:p.Met1110Ile
ENST00000389817.7:c.3327G>A	ENSP00000374467.3:p.Met1109Ile
ENST00000524561.1:n.459G>A
ENST00000527905.5:c.*203G>A	ENSP00000431653.1:n.*203G>A
NM_000352.4:c.3327G>A	NP_000343.2:p.Met1109Ile
NM_001287174.1:c.3330G>A	NP_001274103.1:p.Met1110Ile
XM_011520331.1:c.3327G>A	XP_011518633.1:p.Met1109Ile
XM_011520332.1:c.3330G>A	XP_011518634.1:p.Met1110Ile
XM_011520333.1:c.1827G>A	XP_011518635.1:p.Met609Ile
XR_930890.1:n.3393G>A
XR_930891.1:n.3393G>A
XR_930892.1:n.3293G>A
XR_930893.1:n.3290G>A
NM_001351295.1:c.3393G>A	NP_001338224.1:p.Met1131Ile
NM_001351296.1:c.3327G>A	NP_001338225.1:p.Met1109Ile
NM_001351297.1:c.3324G>A	NP_001338226.1:p.Met1108Ile
NR_147094.1:n.3476G>A
XM_017018197.2:c.3396G>A	XP_016873686.1:p.Met1132Ile
XM_017018199.1:c.3393G>A	XP_016873688.1:p.Met1131Ile
XM_017018201.2:c.3396G>A	XP_016873690.1:p.Met1132Ile
XM_017018202.1:c.1893G>A	XP_016873691.1:p.Met631Ile
XM_017018204.1:c.1284G>A	XP_016873693.1:p.Met428Ile
XM_024448668.1:c.1695G>A	XP_024304436.1:p.Met565Ile
XR_001747945.2:n.3468G>A
XR_001747946.2:n.3399G>A
XR_002957189.1:n.3548G>A
NM_000352.6:c.3327G>A MANE Select	NP_000343.2:p.Met1109Ile
NM_001287174.2:c.3330G>A	NP_001274103.1:p.Met1110Ile
NM_001351295.2:c.3393G>A	NP_001338224.1:p.Met1131Ile
NM_001351296.2:c.3327G>A	NP_001338225.1:p.Met1109Ile
NM_001351297.2:c.3324G>A	NP_001338226.1:p.Met1108Ile
NR_147094.2:n.3476G>A
NM_001287174.3:c.3330G>A	NP_001274103.1:p.Met1110Ile