Canonical Allele Identifier: CA473299729

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426192G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404645G>A , CM000673.2:g.17404645G>A	GRCh38
NC_000011.9:g.17426192G>A , CM000673.1:g.17426192G>A	GRCh37
NC_000011.8:g.17382768G>A	NCBI36
NG_008867.1:g.77258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2993C>T
ENST00000528374.2:c.3C>T
ENST00000529967.6:n.1763C>T
ENST00000532220.2:n.1156C>T
ENST00000642611.2:n.3493C>T
ENST00000645004.2:n.923C>T
ENST00000682051.1:n.3440C>T
ENST00000682110.1:n.3493C>T
ENST00000682140.1:c.3421C>T	ENSP00000507829.1:p.Leu1141=
ENST00000682185.1:n.4729C>T
ENST00000682204.1:c.*1562C>T	ENSP00000507094.1:n.*1562C>T
ENST00000682215.1:n.3490C>T
ENST00000682288.1:c.*1855C>T	ENSP00000507506.1:n.*1855C>T
ENST00000682442.1:n.3713C>T
ENST00000682528.1:n.3570C>T
ENST00000682673.1:n.3437C>T
ENST00000682805.1:n.3490C>T
ENST00000682965.1:c.3396+849C>T	ENSP00000508229.1:n.3396+849C>T
ENST00000683093.1:n.3592C>T
ENST00000683136.1:c.3421C>T	ENSP00000507768.1:p.Leu1141=
ENST00000683153.1:n.3649C>T
ENST00000683365.1:n.3595C>T
ENST00000683377.1:n.3493C>T
ENST00000683456.1:c.*561C>T	ENSP00000508318.1:n.*561C>T
ENST00000683522.1:n.3493C>T
ENST00000683562.1:c.*1593C>T	ENSP00000508265.1:n.*1593C>T
ENST00000683693.1:n.3570C>T
ENST00000683725.1:c.3424C>T	ENSP00000507496.1:p.Leu1142=
ENST00000684010.1:n.3488C>T
ENST00000684157.1:n.3493C>T
ENST00000684253.1:n.3396C>T
ENST00000684288.1:c.*1596C>T	ENSP00000507143.1:n.*1596C>T
ENST00000684313.1:n.2925C>T
ENST00000684332.1:n.3566C>T
ENST00000684371.1:n.3599C>T
ENST00000684404.1:n.3536C>T
ENST00000684442.1:n.3493C>T
ENST00000684555.1:c.*1636C>T	ENSP00000507705.1:n.*1636C>T
ENST00000684571.1:c.3265C>T	ENSP00000506935.1:p.Leu1089=
ENST00000684593.1:c.*3129C>T	ENSP00000507005.1:n.*3129C>T
ENST00000684711.1:c.*1820C>T	ENSP00000506841.1:n.*1820C>T
ENST00000302539.9:c.3427C>T	ENSP00000303960.4:p.Leu1143=
ENST00000389817.8:c.3424C>T MANE Select	ENSP00000374467.4:p.Leu1142=
ENST00000642271.1:c.3421C>T	ENSP00000493749.1:p.Leu1141=
ENST00000642579.1:c.1508C>T
ENST00000642611.1:n.3378C>T
ENST00000642902.1:c.3206C>T
ENST00000643260.1:c.3424C>T	ENSP00000494450.1:p.Leu1142=
ENST00000643562.1:c.*1400C>T	ENSP00000496124.1:n.*1400C>T
ENST00000643925.1:c.1548C>T
ENST00000644447.1:c.1780C>T	ENSP00000496282.1:p.Leu594=
ENST00000644484.1:c.*1679C>T	ENSP00000493558.1:n.*1679C>T
ENST00000644675.1:c.*1596C>T	ENSP00000494567.1:n.*1596C>T
ENST00000644757.1:c.*1709C>T	ENSP00000495085.1:n.*1709C>T
ENST00000644772.1:c.3490C>T	ENSP00000494321.1:p.Leu1164=
ENST00000645004.1:n.563C>T
ENST00000645076.1:c.2623C>T
ENST00000645417.1:c.590C>T
ENST00000645744.1:c.*1688C>T	ENSP00000494564.1:n.*1688C>T
ENST00000645760.1:c.3699C>T
ENST00000645884.1:c.*561C>T	ENSP00000495516.1:n.*561C>T
ENST00000646003.1:c.*1380C>T	ENSP00000495259.1:n.*1380C>T
ENST00000646207.1:c.*1891C>T	ENSP00000495025.1:n.*1891C>T
ENST00000646276.1:c.*1697C>T	ENSP00000496070.1:n.*1697C>T
ENST00000646592.1:c.2730C>T
ENST00000646902.1:c.3421C>T	ENSP00000494101.1:p.Leu1141=
ENST00000646993.1:c.*1820C>T	ENSP00000493720.1:n.*1820C>T
ENST00000647013.1:c.3430C>T	ENSP00000496741.1:n.3430C>T
ENST00000647015.1:c.3175C>T	ENSP00000495389.1:p.Leu1059=
ENST00000647086.1:c.*3154C>T	ENSP00000493677.1:n.*3154C>T
ENST00000647158.1:c.*1565C>T	ENSP00000495744.1:n.*1565C>T
ENST00000302539.8:c.3427C>T	ENSP00000303960.4:p.Leu1143=
ENST00000389817.7:c.3424C>T	ENSP00000374467.3:p.Leu1142=
ENST00000524561.1:n.556C>T
ENST00000527905.5:c.*300C>T	ENSP00000431653.1:n.*300C>T
NM_000352.4:c.3424C>T	NP_000343.2:p.Leu1142=
NM_001287174.1:c.3427C>T	NP_001274103.1:p.Leu1143=
XM_011520331.1:c.3424C>T	XP_011518633.1:p.Leu1142=
XM_011520332.1:c.3427C>T	XP_011518634.1:p.Leu1143=
XM_011520333.1:c.1924C>T	XP_011518635.1:p.Leu642=
XR_930890.1:n.3490C>T
XR_930892.1:n.3390C>T
XR_930893.1:n.3387C>T
NM_001351295.1:c.3490C>T	NP_001338224.1:p.Leu1164=
NM_001351296.1:c.3424C>T	NP_001338225.1:p.Leu1142=
NM_001351297.1:c.3421C>T	NP_001338226.1:p.Leu1141=
NR_147094.1:n.3573C>T
XM_017018197.2:c.3493C>T	XP_016873686.1:p.Leu1165=
XM_017018199.1:c.3490C>T	XP_016873688.1:p.Leu1164=
XM_017018201.2:c.3493C>T	XP_016873690.1:p.Leu1165=
XM_017018202.1:c.1990C>T	XP_016873691.1:p.Leu664=
XM_017018204.1:c.1381C>T	XP_016873693.1:p.Leu461=
XM_024448668.1:c.1792C>T	XP_024304436.1:p.Leu598=
XR_001747945.2:n.3565C>T
XR_001747946.2:n.3496C>T
XR_002957189.1:n.3645C>T
NM_000352.6:c.3424C>T MANE Select	NP_000343.2:p.Leu1142=
NM_001287174.2:c.3427C>T	NP_001274103.1:p.Leu1143=
NM_001351295.2:c.3490C>T	NP_001338224.1:p.Leu1164=
NM_001351296.2:c.3424C>T	NP_001338225.1:p.Leu1142=
NM_001351297.2:c.3421C>T	NP_001338226.1:p.Leu1141=
NR_147094.2:n.3573C>T
NM_001287174.3:c.3427C>T	NP_001274103.1:p.Leu1143=