Canonical Allele Identifier: CA473299685

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426151G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404604G>T , CM000673.2:g.17404604G>T	GRCh38
NC_000011.9:g.17426151G>T , CM000673.1:g.17426151G>T	GRCh37
NC_000011.8:g.17382727G>T	NCBI36
NG_008867.1:g.77299C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3034C>A
ENST00000528374.2:c.44C>A
ENST00000529967.6:n.1804C>A
ENST00000532220.2:n.1197C>A
ENST00000642611.2:n.3534C>A
ENST00000645004.2:n.964C>A
ENST00000682051.1:n.3481C>A
ENST00000682110.1:n.3534C>A
ENST00000682140.1:c.3462C>A	ENSP00000507829.1:p.Val1154=
ENST00000682185.1:n.4770C>A
ENST00000682204.1:c.*1603C>A	ENSP00000507094.1:n.*1603C>A
ENST00000682215.1:n.3531C>A
ENST00000682288.1:c.*1896C>A	ENSP00000507506.1:n.*1896C>A
ENST00000682442.1:n.3754C>A
ENST00000682528.1:n.3611C>A
ENST00000682673.1:n.3478C>A
ENST00000682805.1:n.3531C>A
ENST00000682965.1:c.3396+890C>A	ENSP00000508229.1:n.3396+890C>A
ENST00000683093.1:n.3633C>A
ENST00000683136.1:c.3462C>A	ENSP00000507768.1:p.Val1154=
ENST00000683153.1:n.3690C>A
ENST00000683365.1:n.3636C>A
ENST00000683377.1:n.3534C>A
ENST00000683456.1:c.*602C>A	ENSP00000508318.1:n.*602C>A
ENST00000683522.1:n.3534C>A
ENST00000683562.1:c.*1634C>A	ENSP00000508265.1:n.*1634C>A
ENST00000683693.1:n.3611C>A
ENST00000683725.1:c.3465C>A	ENSP00000507496.1:p.Val1155=
ENST00000684010.1:n.3529C>A
ENST00000684157.1:n.3534C>A
ENST00000684253.1:n.3437C>A
ENST00000684288.1:c.*1637C>A	ENSP00000507143.1:n.*1637C>A
ENST00000684313.1:n.2966C>A
ENST00000684332.1:n.3607C>A
ENST00000684371.1:n.3640C>A
ENST00000684404.1:n.3577C>A
ENST00000684442.1:n.3534C>A
ENST00000684555.1:c.*1677C>A	ENSP00000507705.1:n.*1677C>A
ENST00000684571.1:c.3306C>A	ENSP00000506935.1:p.Val1102=
ENST00000684593.1:c.*3170C>A	ENSP00000507005.1:n.*3170C>A
ENST00000684711.1:c.*1861C>A	ENSP00000506841.1:n.*1861C>A
ENST00000302539.9:c.3468C>A	ENSP00000303960.4:p.Val1156=
ENST00000389817.8:c.3465C>A MANE Select	ENSP00000374467.4:p.Val1155=
ENST00000642271.1:c.3462C>A	ENSP00000493749.1:p.Val1154=
ENST00000642579.1:c.1549C>A
ENST00000642611.1:n.3419C>A
ENST00000642902.1:c.3247C>A
ENST00000643260.1:c.3465C>A	ENSP00000494450.1:p.Val1155=
ENST00000643562.1:c.*1441C>A	ENSP00000496124.1:n.*1441C>A
ENST00000643925.1:c.1589C>A
ENST00000644447.1:c.1821C>A	ENSP00000496282.1:p.Val607=
ENST00000644484.1:c.*1720C>A	ENSP00000493558.1:n.*1720C>A
ENST00000644675.1:c.*1637C>A	ENSP00000494567.1:n.*1637C>A
ENST00000644757.1:c.*1750C>A	ENSP00000495085.1:n.*1750C>A
ENST00000644772.1:c.3531C>A	ENSP00000494321.1:p.Val1177=
ENST00000645004.1:n.604C>A
ENST00000645076.1:c.2664C>A
ENST00000645417.1:c.631C>A
ENST00000645744.1:c.*1729C>A	ENSP00000494564.1:n.*1729C>A
ENST00000645760.1:c.3740C>A
ENST00000645884.1:c.*602C>A	ENSP00000495516.1:n.*602C>A
ENST00000646003.1:c.*1421C>A	ENSP00000495259.1:n.*1421C>A
ENST00000646207.1:c.*1932C>A	ENSP00000495025.1:n.*1932C>A
ENST00000646276.1:c.*1738C>A	ENSP00000496070.1:n.*1738C>A
ENST00000646592.1:c.2771C>A
ENST00000646902.1:c.3462C>A	ENSP00000494101.1:p.Val1154=
ENST00000646993.1:c.*1861C>A	ENSP00000493720.1:n.*1861C>A
ENST00000647013.1:c.3471C>A	ENSP00000496741.1:n.3471C>A
ENST00000647015.1:c.3216C>A	ENSP00000495389.1:p.Val1072=
ENST00000647086.1:c.*3195C>A	ENSP00000493677.1:n.*3195C>A
ENST00000647158.1:c.*1606C>A	ENSP00000495744.1:n.*1606C>A
ENST00000302539.8:c.3468C>A	ENSP00000303960.4:p.Val1156=
ENST00000389817.7:c.3465C>A	ENSP00000374467.3:p.Val1155=
ENST00000524561.1:n.597C>A
ENST00000527905.5:c.*341C>A	ENSP00000431653.1:n.*341C>A
NM_000352.4:c.3465C>A	NP_000343.2:p.Val1155=
NM_001287174.1:c.3468C>A	NP_001274103.1:p.Val1156=
XM_011520331.1:c.3465C>A	XP_011518633.1:p.Val1155=
XM_011520332.1:c.3468C>A	XP_011518634.1:p.Val1156=
XM_011520333.1:c.1965C>A	XP_011518635.1:p.Val655=
XR_930890.1:n.3531C>A
XR_930892.1:n.3431C>A
XR_930893.1:n.3428C>A
NM_001351295.1:c.3531C>A	NP_001338224.1:p.Val1177=
NM_001351296.1:c.3465C>A	NP_001338225.1:p.Val1155=
NM_001351297.1:c.3462C>A	NP_001338226.1:p.Val1154=
NR_147094.1:n.3614C>A
XM_017018197.2:c.3534C>A	XP_016873686.1:p.Val1178=
XM_017018199.1:c.3531C>A	XP_016873688.1:p.Val1177=
XM_017018201.2:c.3534C>A	XP_016873690.1:p.Val1178=
XM_017018202.1:c.2031C>A	XP_016873691.1:p.Val677=
XM_017018204.1:c.1422C>A	XP_016873693.1:p.Val474=
XM_024448668.1:c.1833C>A	XP_024304436.1:p.Val611=
XR_001747945.2:n.3606C>A
XR_001747946.2:n.3537C>A
XR_002957189.1:n.3686C>A
NM_000352.6:c.3465C>A MANE Select	NP_000343.2:p.Val1155=
NM_001287174.2:c.3468C>A	NP_001274103.1:p.Val1156=
NM_001351295.2:c.3531C>A	NP_001338224.1:p.Val1177=
NM_001351296.2:c.3465C>A	NP_001338225.1:p.Val1155=
NM_001351297.2:c.3462C>A	NP_001338226.1:p.Val1154=
NR_147094.2:n.3614C>A
NM_001287174.3:c.3468C>A	NP_001274103.1:p.Val1156=