Canonical Allele Identifier: CA473299726

Gene: ABCC8

Linked Data

• dbSNP Id: rs1954425899
• MyVariant Identifiers: chr11:g.17426190C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404643C>T , CM000673.2:g.17404643C>T	GRCh38
NC_000011.9:g.17426190C>T , CM000673.1:g.17426190C>T	GRCh37
NC_000011.8:g.17382766C>T	NCBI36
NG_008867.1:g.77260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2995G>A
ENST00000528374.2:c.5G>A
ENST00000529967.6:n.1765G>A
ENST00000532220.2:n.1158G>A
ENST00000642611.2:n.3495G>A
ENST00000645004.2:n.925G>A
ENST00000682051.1:n.3442G>A
ENST00000682110.1:n.3495G>A
ENST00000682140.1:c.3423G>A	ENSP00000507829.1:p.Leu1141=
ENST00000682185.1:n.4731G>A
ENST00000682204.1:c.*1564G>A	ENSP00000507094.1:n.*1564G>A
ENST00000682215.1:n.3492G>A
ENST00000682288.1:c.*1857G>A	ENSP00000507506.1:n.*1857G>A
ENST00000682442.1:n.3715G>A
ENST00000682528.1:n.3572G>A
ENST00000682673.1:n.3439G>A
ENST00000682805.1:n.3492G>A
ENST00000682965.1:c.3396+851G>A	ENSP00000508229.1:n.3396+851G>A
ENST00000683093.1:n.3594G>A
ENST00000683136.1:c.3423G>A	ENSP00000507768.1:p.Leu1141=
ENST00000683153.1:n.3651G>A
ENST00000683365.1:n.3597G>A
ENST00000683377.1:n.3495G>A
ENST00000683456.1:c.*563G>A	ENSP00000508318.1:n.*563G>A
ENST00000683522.1:n.3495G>A
ENST00000683562.1:c.*1595G>A	ENSP00000508265.1:n.*1595G>A
ENST00000683693.1:n.3572G>A
ENST00000683725.1:c.3426G>A	ENSP00000507496.1:p.Leu1142=
ENST00000684010.1:n.3490G>A
ENST00000684157.1:n.3495G>A
ENST00000684253.1:n.3398G>A
ENST00000684288.1:c.*1598G>A	ENSP00000507143.1:n.*1598G>A
ENST00000684313.1:n.2927G>A
ENST00000684332.1:n.3568G>A
ENST00000684371.1:n.3601G>A
ENST00000684404.1:n.3538G>A
ENST00000684442.1:n.3495G>A
ENST00000684555.1:c.*1638G>A	ENSP00000507705.1:n.*1638G>A
ENST00000684571.1:c.3267G>A	ENSP00000506935.1:p.Leu1089=
ENST00000684593.1:c.*3131G>A	ENSP00000507005.1:n.*3131G>A
ENST00000684711.1:c.*1822G>A	ENSP00000506841.1:n.*1822G>A
ENST00000302539.9:c.3429G>A	ENSP00000303960.4:p.Leu1143=
ENST00000389817.8:c.3426G>A MANE Select	ENSP00000374467.4:p.Leu1142=
ENST00000642271.1:c.3423G>A	ENSP00000493749.1:p.Leu1141=
ENST00000642579.1:c.1510G>A
ENST00000642611.1:n.3380G>A
ENST00000642902.1:c.3208G>A
ENST00000643260.1:c.3426G>A	ENSP00000494450.1:p.Leu1142=
ENST00000643562.1:c.*1402G>A	ENSP00000496124.1:n.*1402G>A
ENST00000643925.1:c.1550G>A
ENST00000644447.1:c.1782G>A	ENSP00000496282.1:p.Leu594=
ENST00000644484.1:c.*1681G>A	ENSP00000493558.1:n.*1681G>A
ENST00000644675.1:c.*1598G>A	ENSP00000494567.1:n.*1598G>A
ENST00000644757.1:c.*1711G>A	ENSP00000495085.1:n.*1711G>A
ENST00000644772.1:c.3492G>A	ENSP00000494321.1:p.Leu1164=
ENST00000645004.1:n.565G>A
ENST00000645076.1:c.2625G>A
ENST00000645417.1:c.592G>A
ENST00000645744.1:c.*1690G>A	ENSP00000494564.1:n.*1690G>A
ENST00000645760.1:c.3701G>A
ENST00000645884.1:c.*563G>A	ENSP00000495516.1:n.*563G>A
ENST00000646003.1:c.*1382G>A	ENSP00000495259.1:n.*1382G>A
ENST00000646207.1:c.*1893G>A	ENSP00000495025.1:n.*1893G>A
ENST00000646276.1:c.*1699G>A	ENSP00000496070.1:n.*1699G>A
ENST00000646592.1:c.2732G>A
ENST00000646902.1:c.3423G>A	ENSP00000494101.1:p.Leu1141=
ENST00000646993.1:c.*1822G>A	ENSP00000493720.1:n.*1822G>A
ENST00000647013.1:c.3432G>A	ENSP00000496741.1:n.3432G>A
ENST00000647015.1:c.3177G>A	ENSP00000495389.1:p.Leu1059=
ENST00000647086.1:c.*3156G>A	ENSP00000493677.1:n.*3156G>A
ENST00000647158.1:c.*1567G>A	ENSP00000495744.1:n.*1567G>A
ENST00000302539.8:c.3429G>A	ENSP00000303960.4:p.Leu1143=
ENST00000389817.7:c.3426G>A	ENSP00000374467.3:p.Leu1142=
ENST00000524561.1:n.558G>A
ENST00000527905.5:c.*302G>A	ENSP00000431653.1:n.*302G>A
NM_000352.4:c.3426G>A	NP_000343.2:p.Leu1142=
NM_001287174.1:c.3429G>A	NP_001274103.1:p.Leu1143=
XM_011520331.1:c.3426G>A	XP_011518633.1:p.Leu1142=
XM_011520332.1:c.3429G>A	XP_011518634.1:p.Leu1143=
XM_011520333.1:c.1926G>A	XP_011518635.1:p.Leu642=
XR_930890.1:n.3492G>A
XR_930892.1:n.3392G>A
XR_930893.1:n.3389G>A
NM_001351295.1:c.3492G>A	NP_001338224.1:p.Leu1164=
NM_001351296.1:c.3426G>A	NP_001338225.1:p.Leu1142=
NM_001351297.1:c.3423G>A	NP_001338226.1:p.Leu1141=
NR_147094.1:n.3575G>A
XM_017018197.2:c.3495G>A	XP_016873686.1:p.Leu1165=
XM_017018199.1:c.3492G>A	XP_016873688.1:p.Leu1164=
XM_017018201.2:c.3495G>A	XP_016873690.1:p.Leu1165=
XM_017018202.1:c.1992G>A	XP_016873691.1:p.Leu664=
XM_017018204.1:c.1383G>A	XP_016873693.1:p.Leu461=
XM_024448668.1:c.1794G>A	XP_024304436.1:p.Leu598=
XR_001747945.2:n.3567G>A
XR_001747946.2:n.3498G>A
XR_002957189.1:n.3647G>A
NM_000352.6:c.3426G>A MANE Select	NP_000343.2:p.Leu1142=
NM_001287174.2:c.3429G>A	NP_001274103.1:p.Leu1143=
NM_001351295.2:c.3492G>A	NP_001338224.1:p.Leu1164=
NM_001351296.2:c.3426G>A	NP_001338225.1:p.Leu1142=
NM_001351297.2:c.3423G>A	NP_001338226.1:p.Leu1141=
NR_147094.2:n.3575G>A
NM_001287174.3:c.3429G>A	NP_001274103.1:p.Leu1143=