Canonical Allele Identifier: CA5902800

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1210344
• ClinVar RCV Id: RCV001580619 ; RCV001580618 ; RCV002266006 ; RCV002569104 ; RCV002495927
• dbSNP Id: rs759961510
• ExAC: 11:17426153 C / T
• gnomAD v2: 11-17426153-C-T
• gnomAD v3: 11-17404606-C-T
• gnomAD v4: 11-17404606-C-T
• MyVariant Identifiers: chr11:g.17426153C>T (hg19) ; chr11:g.17404606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404606C>T , CM000673.2:g.17404606C>T	GRCh38
NC_000011.9:g.17426153C>T , CM000673.1:g.17426153C>T	GRCh37
NC_000011.8:g.17382729C>T	NCBI36
NG_008867.1:g.77297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3032G>A
ENST00000528374.2:c.42G>A
ENST00000529967.6:n.1802G>A
ENST00000532220.2:n.1195G>A
ENST00000642611.2:n.3532G>A
ENST00000645004.2:n.962G>A
ENST00000682051.1:n.3479G>A
ENST00000682110.1:n.3532G>A
ENST00000682140.1:c.3460G>A	ENSP00000507829.1:p.Val1154Ile
ENST00000682185.1:n.4768G>A
ENST00000682204.1:c.*1601G>A	ENSP00000507094.1:n.*1601G>A
ENST00000682215.1:n.3529G>A
ENST00000682288.1:c.*1894G>A	ENSP00000507506.1:n.*1894G>A
ENST00000682442.1:n.3752G>A
ENST00000682528.1:n.3609G>A
ENST00000682673.1:n.3476G>A
ENST00000682805.1:n.3529G>A
ENST00000682965.1:c.3396+888G>A	ENSP00000508229.1:n.3396+888G>A
ENST00000683093.1:n.3631G>A
ENST00000683136.1:c.3460G>A	ENSP00000507768.1:p.Val1154Ile
ENST00000683153.1:n.3688G>A
ENST00000683365.1:n.3634G>A
ENST00000683377.1:n.3532G>A
ENST00000683456.1:c.*600G>A	ENSP00000508318.1:n.*600G>A
ENST00000683522.1:n.3532G>A
ENST00000683562.1:c.*1632G>A	ENSP00000508265.1:n.*1632G>A
ENST00000683693.1:n.3609G>A
ENST00000683725.1:c.3463G>A	ENSP00000507496.1:p.Val1155Ile
ENST00000684010.1:n.3527G>A
ENST00000684157.1:n.3532G>A
ENST00000684253.1:n.3435G>A
ENST00000684288.1:c.*1635G>A	ENSP00000507143.1:n.*1635G>A
ENST00000684313.1:n.2964G>A
ENST00000684332.1:n.3605G>A
ENST00000684371.1:n.3638G>A
ENST00000684404.1:n.3575G>A
ENST00000684442.1:n.3532G>A
ENST00000684555.1:c.*1675G>A	ENSP00000507705.1:n.*1675G>A
ENST00000684571.1:c.3304G>A	ENSP00000506935.1:p.Val1102Ile
ENST00000684593.1:c.*3168G>A	ENSP00000507005.1:n.*3168G>A
ENST00000684711.1:c.*1859G>A	ENSP00000506841.1:n.*1859G>A
ENST00000302539.9:c.3466G>A	ENSP00000303960.4:p.Val1156Ile
ENST00000389817.8:c.3463G>A MANE Select	ENSP00000374467.4:p.Val1155Ile
ENST00000642271.1:c.3460G>A	ENSP00000493749.1:p.Val1154Ile
ENST00000642579.1:c.1547G>A
ENST00000642611.1:n.3417G>A
ENST00000642902.1:c.3245G>A
ENST00000643260.1:c.3463G>A	ENSP00000494450.1:p.Val1155Ile
ENST00000643562.1:c.*1439G>A	ENSP00000496124.1:n.*1439G>A
ENST00000643925.1:c.1587G>A
ENST00000644447.1:c.1819G>A	ENSP00000496282.1:p.Val607Ile
ENST00000644484.1:c.*1718G>A	ENSP00000493558.1:n.*1718G>A
ENST00000644675.1:c.*1635G>A	ENSP00000494567.1:n.*1635G>A
ENST00000644757.1:c.*1748G>A	ENSP00000495085.1:n.*1748G>A
ENST00000644772.1:c.3529G>A	ENSP00000494321.1:p.Val1177Ile
ENST00000645004.1:n.602G>A
ENST00000645076.1:c.2662G>A
ENST00000645417.1:c.629G>A
ENST00000645744.1:c.*1727G>A	ENSP00000494564.1:n.*1727G>A
ENST00000645760.1:c.3738G>A
ENST00000645884.1:c.*600G>A	ENSP00000495516.1:n.*600G>A
ENST00000646003.1:c.*1419G>A	ENSP00000495259.1:n.*1419G>A
ENST00000646207.1:c.*1930G>A	ENSP00000495025.1:n.*1930G>A
ENST00000646276.1:c.*1736G>A	ENSP00000496070.1:n.*1736G>A
ENST00000646592.1:c.2769G>A
ENST00000646902.1:c.3460G>A	ENSP00000494101.1:p.Val1154Ile
ENST00000646993.1:c.*1859G>A	ENSP00000493720.1:n.*1859G>A
ENST00000647013.1:c.3469G>A	ENSP00000496741.1:n.3469G>A
ENST00000647015.1:c.3214G>A	ENSP00000495389.1:p.Val1072Ile
ENST00000647086.1:c.*3193G>A	ENSP00000493677.1:n.*3193G>A
ENST00000647158.1:c.*1604G>A	ENSP00000495744.1:n.*1604G>A
ENST00000302539.8:c.3466G>A	ENSP00000303960.4:p.Val1156Ile
ENST00000389817.7:c.3463G>A	ENSP00000374467.3:p.Val1155Ile
ENST00000524561.1:n.595G>A
ENST00000527905.5:c.*339G>A	ENSP00000431653.1:n.*339G>A
NM_000352.4:c.3463G>A	NP_000343.2:p.Val1155Ile
NM_001287174.1:c.3466G>A	NP_001274103.1:p.Val1156Ile
XM_011520331.1:c.3463G>A	XP_011518633.1:p.Val1155Ile
XM_011520332.1:c.3466G>A	XP_011518634.1:p.Val1156Ile
XM_011520333.1:c.1963G>A	XP_011518635.1:p.Val655Ile
XR_930890.1:n.3529G>A
XR_930892.1:n.3429G>A
XR_930893.1:n.3426G>A
NM_001351295.1:c.3529G>A	NP_001338224.1:p.Val1177Ile
NM_001351296.1:c.3463G>A	NP_001338225.1:p.Val1155Ile
NM_001351297.1:c.3460G>A	NP_001338226.1:p.Val1154Ile
NR_147094.1:n.3612G>A
XM_017018197.2:c.3532G>A	XP_016873686.1:p.Val1178Ile
XM_017018199.1:c.3529G>A	XP_016873688.1:p.Val1177Ile
XM_017018201.2:c.3532G>A	XP_016873690.1:p.Val1178Ile
XM_017018202.1:c.2029G>A	XP_016873691.1:p.Val677Ile
XM_017018204.1:c.1420G>A	XP_016873693.1:p.Val474Ile
XM_024448668.1:c.1831G>A	XP_024304436.1:p.Val611Ile
XR_001747945.2:n.3604G>A
XR_001747946.2:n.3535G>A
XR_002957189.1:n.3684G>A
NM_000352.6:c.3463G>A MANE Select	NP_000343.2:p.Val1155Ile
NM_001287174.2:c.3466G>A	NP_001274103.1:p.Val1156Ile
NM_001351295.2:c.3529G>A	NP_001338224.1:p.Val1177Ile
NM_001351296.2:c.3463G>A	NP_001338225.1:p.Val1155Ile
NM_001351297.2:c.3460G>A	NP_001338226.1:p.Val1154Ile
NR_147094.2:n.3612G>A
NM_001287174.3:c.3466G>A	NP_001274103.1:p.Val1156Ile