Canonical Allele Identifier: CA5902926

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1687725
• ClinVar RCV Id: RCV002251699 ; RCV002274253 ; RCV003738166
• dbSNP Id: rs376413488
• ExAC: 11:17428510 G / T
• gnomAD v2: 11-17428510-G-T
• gnomAD v3: 11-17406963-G-T
• gnomAD v4: 11-17406963-G-T
• COSMIC: COSM3791383
• MyVariant Identifiers: chr11:g.17428510G>T (hg19) ; chr11:g.17406963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406963G>T , CM000673.2:g.17406963G>T	GRCh38
NC_000011.9:g.17428510G>T , CM000673.1:g.17428510G>T	GRCh37
NC_000011.8:g.17385086G>T	NCBI36
NG_008867.1:g.74940C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2656C>A
ENST00000529967.6:n.1426C>A
ENST00000532220.2:n.819C>A
ENST00000642611.2:n.3156C>A
ENST00000645004.2:n.586C>A
ENST00000682051.1:n.3103C>A
ENST00000682110.1:n.3156C>A
ENST00000682140.1:c.3084C>A	ENSP00000507829.1:p.Ile1028=
ENST00000682185.1:n.4392C>A
ENST00000682204.1:c.*1225C>A	ENSP00000507094.1:n.*1225C>A
ENST00000682215.1:n.3153C>A
ENST00000682288.1:c.*1518C>A	ENSP00000507506.1:n.*1518C>A
ENST00000682442.1:n.3277C>A
ENST00000682528.1:n.3233C>A
ENST00000682673.1:n.3100C>A
ENST00000682805.1:n.3153C>A
ENST00000682965.1:c.3084C>A	ENSP00000508229.1:p.Ile1028=
ENST00000683093.1:n.3255C>A
ENST00000683136.1:c.3084C>A	ENSP00000507768.1:p.Ile1028=
ENST00000683153.1:n.3312C>A
ENST00000683365.1:n.3258C>A
ENST00000683377.1:n.3156C>A
ENST00000683456.1:c.*224C>A	ENSP00000508318.1:n.*224C>A
ENST00000683522.1:n.3156C>A
ENST00000683562.1:c.*1256C>A	ENSP00000508265.1:n.*1256C>A
ENST00000683693.1:n.3233C>A
ENST00000683725.1:c.3087C>A	ENSP00000507496.1:p.Ile1029=
ENST00000684010.1:n.3151C>A
ENST00000684157.1:n.3156C>A
ENST00000684253.1:n.3059C>A
ENST00000684288.1:c.*1259C>A	ENSP00000507143.1:n.*1259C>A
ENST00000684313.1:n.2588C>A
ENST00000684332.1:n.3229C>A
ENST00000684371.1:n.3262C>A
ENST00000684404.1:n.3199C>A
ENST00000684442.1:n.3156C>A
ENST00000684555.1:c.*1299C>A	ENSP00000507705.1:n.*1299C>A
ENST00000684571.1:c.2928C>A	ENSP00000506935.1:p.Ile976=
ENST00000684593.1:c.*2792C>A	ENSP00000507005.1:n.*2792C>A
ENST00000684711.1:c.*1483C>A	ENSP00000506841.1:n.*1483C>A
ENST00000302539.9:c.3090C>A	ENSP00000303960.4:p.Ile1030=
ENST00000389817.8:c.3087C>A MANE Select	ENSP00000374467.4:p.Ile1029=
ENST00000642271.1:c.3084C>A	ENSP00000493749.1:p.Ile1028=
ENST00000642579.1:c.1171C>A
ENST00000642611.1:n.3041C>A
ENST00000642902.1:c.2869C>A
ENST00000643260.1:c.3087C>A	ENSP00000494450.1:p.Ile1029=
ENST00000643562.1:c.*1063C>A	ENSP00000496124.1:n.*1063C>A
ENST00000643925.1:c.1211C>A
ENST00000644447.1:c.1443C>A	ENSP00000496282.1:p.Ile481=
ENST00000644484.1:c.*1342C>A	ENSP00000493558.1:n.*1342C>A
ENST00000644542.1:c.*2792C>A	ENSP00000495532.1:n.*2792C>A
ENST00000644675.1:c.*1259C>A	ENSP00000494567.1:n.*1259C>A
ENST00000644757.1:c.*1372C>A	ENSP00000495085.1:n.*1372C>A
ENST00000644772.1:c.3153C>A	ENSP00000494321.1:p.Ile1051=
ENST00000645004.1:n.226C>A
ENST00000645076.1:c.2286C>A
ENST00000645417.1:c.253C>A
ENST00000645744.1:c.*1351C>A	ENSP00000494564.1:n.*1351C>A
ENST00000645760.1:c.3362C>A
ENST00000645884.1:c.*224C>A	ENSP00000495516.1:n.*224C>A
ENST00000646003.1:c.*1043C>A	ENSP00000495259.1:n.*1043C>A
ENST00000646207.1:c.*1554C>A	ENSP00000495025.1:n.*1554C>A
ENST00000646276.1:c.*1360C>A	ENSP00000496070.1:n.*1360C>A
ENST00000646592.1:c.2393C>A
ENST00000646902.1:c.3084C>A	ENSP00000494101.1:p.Ile1028=
ENST00000646993.1:c.*1483C>A	ENSP00000493720.1:n.*1483C>A
ENST00000647013.1:c.3093C>A	ENSP00000496741.1:n.3093C>A
ENST00000647015.1:c.2838C>A	ENSP00000495389.1:p.Ile946=
ENST00000647086.1:c.*2817C>A	ENSP00000493677.1:n.*2817C>A
ENST00000647158.1:c.*1228C>A	ENSP00000495744.1:n.*1228C>A
ENST00000302539.8:c.3090C>A	ENSP00000303960.4:p.Ile1030=
ENST00000389817.7:c.3087C>A	ENSP00000374467.3:p.Ile1029=
ENST00000524561.1:n.219C>A
ENST00000526921.5:n.771C>A
ENST00000527905.5:c.2957C>A	ENSP00000431653.1:p.Ser986Ter
ENST00000529967.5:n.756C>A
NM_000352.4:c.3087C>A	NP_000343.2:p.Ile1029=
NM_001287174.1:c.3090C>A	NP_001274103.1:p.Ile1030=
XM_011520331.1:c.3087C>A	XP_011518633.1:p.Ile1029=
XM_011520332.1:c.3090C>A	XP_011518634.1:p.Ile1030=
XM_011520333.1:c.1587C>A	XP_011518635.1:p.Ile529=
XR_930890.1:n.3153C>A
XR_930891.1:n.3153C>A
XR_930892.1:n.3053C>A
XR_930893.1:n.3050C>A
NM_001351295.1:c.3153C>A	NP_001338224.1:p.Ile1051=
NM_001351296.1:c.3087C>A	NP_001338225.1:p.Ile1029=
NM_001351297.1:c.3084C>A	NP_001338226.1:p.Ile1028=
NR_147094.1:n.3236C>A
XM_017018197.2:c.3156C>A	XP_016873686.1:p.Ile1052=
XM_017018199.1:c.3153C>A	XP_016873688.1:p.Ile1051=
XM_017018201.2:c.3156C>A	XP_016873690.1:p.Ile1052=
XM_017018202.1:c.1653C>A	XP_016873691.1:p.Ile551=
XM_017018204.1:c.1044C>A	XP_016873693.1:p.Ile348=
XM_024448668.1:c.1455C>A	XP_024304436.1:p.Ile485=
XR_001747945.2:n.3228C>A
XR_001747946.2:n.3159C>A
XR_002957189.1:n.3308C>A
NM_000352.6:c.3087C>A MANE Select	NP_000343.2:p.Ile1029=
NM_001287174.2:c.3090C>A	NP_001274103.1:p.Ile1030=
NM_001351295.2:c.3153C>A	NP_001338224.1:p.Ile1051=
NM_001351296.2:c.3087C>A	NP_001338225.1:p.Ile1029=
NM_001351297.2:c.3084C>A	NP_001338226.1:p.Ile1028=
NR_147094.2:n.3236C>A
NM_001287174.3:c.3090C>A	NP_001274103.1:p.Ile1030=