Canonical Allele Identifier: CA379803438

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428510G>C (hg19) ; chr11:g.17406963G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2656C>G
ENST00000529967.6:n.1426C>G
ENST00000532220.2:n.819C>G
ENST00000642611.2:n.3156C>G
ENST00000645004.2:n.586C>G
ENST00000682051.1:n.3103C>G
ENST00000682110.1:n.3156C>G
ENST00000682140.1:c.3084C>G	ENSP00000507829.1:p.Ile1028Met
ENST00000682185.1:n.4392C>G
ENST00000682204.1:c.*1225C>G	ENSP00000507094.1:n.*1225C>G
ENST00000682215.1:n.3153C>G
ENST00000682288.1:c.*1518C>G	ENSP00000507506.1:n.*1518C>G
ENST00000682442.1:n.3277C>G
ENST00000682528.1:n.3233C>G
ENST00000682673.1:n.3100C>G
ENST00000682805.1:n.3153C>G
ENST00000682965.1:c.3084C>G	ENSP00000508229.1:p.Ile1028Met
ENST00000683093.1:n.3255C>G
ENST00000683136.1:c.3084C>G	ENSP00000507768.1:p.Ile1028Met
ENST00000683153.1:n.3312C>G
ENST00000683365.1:n.3258C>G
ENST00000683377.1:n.3156C>G
ENST00000683456.1:c.*224C>G	ENSP00000508318.1:n.*224C>G
ENST00000683522.1:n.3156C>G
ENST00000683562.1:c.*1256C>G	ENSP00000508265.1:n.*1256C>G
ENST00000683693.1:n.3233C>G
ENST00000683725.1:c.3087C>G	ENSP00000507496.1:p.Ile1029Met
ENST00000684010.1:n.3151C>G
ENST00000684157.1:n.3156C>G
ENST00000684253.1:n.3059C>G
ENST00000684288.1:c.*1259C>G	ENSP00000507143.1:n.*1259C>G
ENST00000684313.1:n.2588C>G
ENST00000684332.1:n.3229C>G
ENST00000684371.1:n.3262C>G
ENST00000684404.1:n.3199C>G
ENST00000684442.1:n.3156C>G
ENST00000684555.1:c.*1299C>G	ENSP00000507705.1:n.*1299C>G
ENST00000684571.1:c.2928C>G	ENSP00000506935.1:p.Ile976Met
ENST00000684593.1:c.*2792C>G	ENSP00000507005.1:n.*2792C>G
ENST00000684711.1:c.*1483C>G	ENSP00000506841.1:n.*1483C>G
ENST00000302539.9:c.3090C>G	ENSP00000303960.4:p.Ile1030Met
ENST00000389817.8:c.3087C>G MANE Select	ENSP00000374467.4:p.Ile1029Met
ENST00000642271.1:c.3084C>G	ENSP00000493749.1:p.Ile1028Met
ENST00000642579.1:c.1171C>G
ENST00000642611.1:n.3041C>G
ENST00000642902.1:c.2869C>G
ENST00000643260.1:c.3087C>G	ENSP00000494450.1:p.Ile1029Met
ENST00000643562.1:c.*1063C>G	ENSP00000496124.1:n.*1063C>G
ENST00000643925.1:c.1211C>G
ENST00000644447.1:c.1443C>G	ENSP00000496282.1:p.Ile481Met
ENST00000644484.1:c.*1342C>G	ENSP00000493558.1:n.*1342C>G
ENST00000644542.1:c.*2792C>G	ENSP00000495532.1:n.*2792C>G
ENST00000644675.1:c.*1259C>G	ENSP00000494567.1:n.*1259C>G
ENST00000644757.1:c.*1372C>G	ENSP00000495085.1:n.*1372C>G
ENST00000644772.1:c.3153C>G	ENSP00000494321.1:p.Ile1051Met
ENST00000645004.1:n.226C>G
ENST00000645076.1:c.2286C>G
ENST00000645417.1:c.253C>G
ENST00000645744.1:c.*1351C>G	ENSP00000494564.1:n.*1351C>G
ENST00000645760.1:c.3362C>G
ENST00000645884.1:c.*224C>G	ENSP00000495516.1:n.*224C>G
ENST00000646003.1:c.*1043C>G	ENSP00000495259.1:n.*1043C>G
ENST00000646207.1:c.*1554C>G	ENSP00000495025.1:n.*1554C>G
ENST00000646276.1:c.*1360C>G	ENSP00000496070.1:n.*1360C>G
ENST00000646592.1:c.2393C>G
ENST00000646902.1:c.3084C>G	ENSP00000494101.1:p.Ile1028Met
ENST00000646993.1:c.*1483C>G	ENSP00000493720.1:n.*1483C>G
ENST00000647013.1:c.3093C>G	ENSP00000496741.1:n.3093C>G
ENST00000647015.1:c.2838C>G	ENSP00000495389.1:p.Ile946Met
ENST00000647086.1:c.*2817C>G	ENSP00000493677.1:n.*2817C>G
ENST00000647158.1:c.*1228C>G	ENSP00000495744.1:n.*1228C>G
ENST00000302539.8:c.3090C>G	ENSP00000303960.4:p.Ile1030Met
ENST00000389817.7:c.3087C>G	ENSP00000374467.3:p.Ile1029Met
ENST00000524561.1:n.219C>G
ENST00000526921.5:n.771C>G
ENST00000527905.5:c.2957C>G	ENSP00000431653.1:p.Ser986Trp
ENST00000529967.5:n.756C>G
NM_000352.4:c.3087C>G	NP_000343.2:p.Ile1029Met
NM_001287174.1:c.3090C>G	NP_001274103.1:p.Ile1030Met
XM_011520331.1:c.3087C>G	XP_011518633.1:p.Ile1029Met
XM_011520332.1:c.3090C>G	XP_011518634.1:p.Ile1030Met
XM_011520333.1:c.1587C>G	XP_011518635.1:p.Ile529Met
XR_930890.1:n.3153C>G
XR_930891.1:n.3153C>G
XR_930892.1:n.3053C>G
XR_930893.1:n.3050C>G
NM_001351295.1:c.3153C>G	NP_001338224.1:p.Ile1051Met
NM_001351296.1:c.3087C>G	NP_001338225.1:p.Ile1029Met
NM_001351297.1:c.3084C>G	NP_001338226.1:p.Ile1028Met
NR_147094.1:n.3236C>G
XM_017018197.2:c.3156C>G	XP_016873686.1:p.Ile1052Met
XM_017018199.1:c.3153C>G	XP_016873688.1:p.Ile1051Met
XM_017018201.2:c.3156C>G	XP_016873690.1:p.Ile1052Met
XM_017018202.1:c.1653C>G	XP_016873691.1:p.Ile551Met
XM_017018204.1:c.1044C>G	XP_016873693.1:p.Ile348Met
XM_024448668.1:c.1455C>G	XP_024304436.1:p.Ile485Met
XR_001747945.2:n.3228C>G
XR_001747946.2:n.3159C>G
XR_002957189.1:n.3308C>G
NM_000352.6:c.3087C>G MANE Select	NP_000343.2:p.Ile1029Met
NM_001287174.2:c.3090C>G	NP_001274103.1:p.Ile1030Met
NM_001351295.2:c.3153C>G	NP_001338224.1:p.Ile1051Met
NM_001351296.2:c.3087C>G	NP_001338225.1:p.Ile1029Met
NM_001351297.2:c.3084C>G	NP_001338226.1:p.Ile1028Met
NR_147094.2:n.3236C>G
NM_001287174.3:c.3090C>G	NP_001274103.1:p.Ile1030Met