Canonical Allele Identifier: CA379801172

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428182G>T (hg19) ; chr11:g.17406635G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406635G>T , CM000673.2:g.17406635G>T	GRCh38
NC_000011.9:g.17428182G>T , CM000673.1:g.17428182G>T	GRCh37
NC_000011.8:g.17384758G>T	NCBI36
NG_008867.1:g.75268C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2885C>A
ENST00000529967.6:n.1655C>A
ENST00000532220.2:n.1048C>A
ENST00000642611.2:n.3385C>A
ENST00000645004.2:n.815C>A
ENST00000682051.1:n.3332C>A
ENST00000682110.1:n.3385C>A
ENST00000682140.1:c.3313C>A	ENSP00000507829.1:p.Leu1105Ile
ENST00000682185.1:n.4621C>A
ENST00000682204.1:c.*1454C>A	ENSP00000507094.1:n.*1454C>A
ENST00000682215.1:n.3382C>A
ENST00000682288.1:c.*1747C>A	ENSP00000507506.1:n.*1747C>A
ENST00000682442.1:n.3605C>A
ENST00000682528.1:n.3462C>A
ENST00000682673.1:n.3329C>A
ENST00000682805.1:n.3382C>A
ENST00000682965.1:c.3313C>A	ENSP00000508229.1:p.Leu1105Ile
ENST00000683093.1:n.3484C>A
ENST00000683136.1:c.3313C>A	ENSP00000507768.1:p.Leu1105Ile
ENST00000683153.1:n.3541C>A
ENST00000683365.1:n.3487C>A
ENST00000683377.1:n.3385C>A
ENST00000683456.1:c.*453C>A	ENSP00000508318.1:n.*453C>A
ENST00000683522.1:n.3385C>A
ENST00000683562.1:c.*1485C>A	ENSP00000508265.1:n.*1485C>A
ENST00000683693.1:n.3462C>A
ENST00000683725.1:c.3316C>A	ENSP00000507496.1:p.Leu1106Ile
ENST00000684010.1:n.3380C>A
ENST00000684157.1:n.3385C>A
ENST00000684253.1:n.3288C>A
ENST00000684288.1:c.*1488C>A	ENSP00000507143.1:n.*1488C>A
ENST00000684313.1:n.2817C>A
ENST00000684332.1:n.3458C>A
ENST00000684371.1:n.3491C>A
ENST00000684404.1:n.3428C>A
ENST00000684442.1:n.3385C>A
ENST00000684555.1:c.*1528C>A	ENSP00000507705.1:n.*1528C>A
ENST00000684571.1:c.3157C>A	ENSP00000506935.1:p.Leu1053Ile
ENST00000684593.1:c.*3021C>A	ENSP00000507005.1:n.*3021C>A
ENST00000684711.1:c.*1712C>A	ENSP00000506841.1:n.*1712C>A
ENST00000302539.9:c.3319C>A	ENSP00000303960.4:p.Leu1107Ile
ENST00000389817.8:c.3316C>A MANE Select	ENSP00000374467.4:p.Leu1106Ile
ENST00000642271.1:c.3313C>A	ENSP00000493749.1:p.Leu1105Ile
ENST00000642579.1:c.1400C>A
ENST00000642611.1:n.3270C>A
ENST00000642902.1:c.3098C>A
ENST00000643260.1:c.3316C>A	ENSP00000494450.1:p.Leu1106Ile
ENST00000643562.1:c.*1292C>A	ENSP00000496124.1:n.*1292C>A
ENST00000643925.1:c.1440C>A
ENST00000644447.1:c.1672C>A	ENSP00000496282.1:p.Leu558Ile
ENST00000644484.1:c.*1571C>A	ENSP00000493558.1:n.*1571C>A
ENST00000644542.1:c.*3120C>A	ENSP00000495532.1:n.*3120C>A
ENST00000644675.1:c.*1488C>A	ENSP00000494567.1:n.*1488C>A
ENST00000644757.1:c.*1601C>A	ENSP00000495085.1:n.*1601C>A
ENST00000644772.1:c.3382C>A	ENSP00000494321.1:p.Leu1128Ile
ENST00000645004.1:n.455C>A
ENST00000645076.1:c.2515C>A
ENST00000645417.1:c.482C>A
ENST00000645744.1:c.*1580C>A	ENSP00000494564.1:n.*1580C>A
ENST00000645760.1:c.3591C>A
ENST00000645884.1:c.*453C>A	ENSP00000495516.1:n.*453C>A
ENST00000646003.1:c.*1272C>A	ENSP00000495259.1:n.*1272C>A
ENST00000646207.1:c.*1783C>A	ENSP00000495025.1:n.*1783C>A
ENST00000646276.1:c.*1589C>A	ENSP00000496070.1:n.*1589C>A
ENST00000646592.1:c.2622C>A
ENST00000646902.1:c.3313C>A	ENSP00000494101.1:p.Leu1105Ile
ENST00000646993.1:c.*1712C>A	ENSP00000493720.1:n.*1712C>A
ENST00000647013.1:c.3322C>A	ENSP00000496741.1:n.3322C>A
ENST00000647015.1:c.3067C>A	ENSP00000495389.1:p.Leu1023Ile
ENST00000647086.1:c.*3046C>A	ENSP00000493677.1:n.*3046C>A
ENST00000647158.1:c.*1457C>A	ENSP00000495744.1:n.*1457C>A
ENST00000302539.8:c.3319C>A	ENSP00000303960.4:p.Leu1107Ile
ENST00000389817.7:c.3316C>A	ENSP00000374467.3:p.Leu1106Ile
ENST00000524561.1:n.448C>A
ENST00000527905.5:c.*192C>A	ENSP00000431653.1:n.*192C>A
NM_000352.4:c.3316C>A	NP_000343.2:p.Leu1106Ile
NM_001287174.1:c.3319C>A	NP_001274103.1:p.Leu1107Ile
XM_011520331.1:c.3316C>A	XP_011518633.1:p.Leu1106Ile
XM_011520332.1:c.3319C>A	XP_011518634.1:p.Leu1107Ile
XM_011520333.1:c.1816C>A	XP_011518635.1:p.Leu606Ile
XR_930890.1:n.3382C>A
XR_930891.1:n.3382C>A
XR_930892.1:n.3282C>A
XR_930893.1:n.3279C>A
NM_001351295.1:c.3382C>A	NP_001338224.1:p.Leu1128Ile
NM_001351296.1:c.3316C>A	NP_001338225.1:p.Leu1106Ile
NM_001351297.1:c.3313C>A	NP_001338226.1:p.Leu1105Ile
NR_147094.1:n.3465C>A
XM_017018197.2:c.3385C>A	XP_016873686.1:p.Leu1129Ile
XM_017018199.1:c.3382C>A	XP_016873688.1:p.Leu1128Ile
XM_017018201.2:c.3385C>A	XP_016873690.1:p.Leu1129Ile
XM_017018202.1:c.1882C>A	XP_016873691.1:p.Leu628Ile
XM_017018204.1:c.1273C>A	XP_016873693.1:p.Leu425Ile
XM_024448668.1:c.1684C>A	XP_024304436.1:p.Leu562Ile
XR_001747945.2:n.3457C>A
XR_001747946.2:n.3388C>A
XR_002957189.1:n.3537C>A
NM_000352.6:c.3316C>A MANE Select	NP_000343.2:p.Leu1106Ile
NM_001287174.2:c.3319C>A	NP_001274103.1:p.Leu1107Ile
NM_001351295.2:c.3382C>A	NP_001338224.1:p.Leu1128Ile
NM_001351296.2:c.3316C>A	NP_001338225.1:p.Leu1106Ile
NM_001351297.2:c.3313C>A	NP_001338226.1:p.Leu1105Ile
NR_147094.2:n.3465C>A
NM_001287174.3:c.3319C>A	NP_001274103.1:p.Leu1107Ile