Canonical Allele Identifier: CA379798375

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426170C>A (hg19) ; chr11:g.17404623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404623C>A , CM000673.2:g.17404623C>A	GRCh38
NC_000011.9:g.17426170C>A , CM000673.1:g.17426170C>A	GRCh37
NC_000011.8:g.17382746C>A	NCBI36
NG_008867.1:g.77280G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3015G>T
ENST00000528374.2:c.25G>T
ENST00000529967.6:n.1785G>T
ENST00000532220.2:n.1178G>T
ENST00000642611.2:n.3515G>T
ENST00000645004.2:n.945G>T
ENST00000682051.1:n.3462G>T
ENST00000682110.1:n.3515G>T
ENST00000682140.1:c.3443G>T	ENSP00000507829.1:p.Cys1148Phe
ENST00000682185.1:n.4751G>T
ENST00000682204.1:c.*1584G>T	ENSP00000507094.1:n.*1584G>T
ENST00000682215.1:n.3512G>T
ENST00000682288.1:c.*1877G>T	ENSP00000507506.1:n.*1877G>T
ENST00000682442.1:n.3735G>T
ENST00000682528.1:n.3592G>T
ENST00000682673.1:n.3459G>T
ENST00000682805.1:n.3512G>T
ENST00000682965.1:c.3396+871G>T	ENSP00000508229.1:n.3396+871G>T
ENST00000683093.1:n.3614G>T
ENST00000683136.1:c.3443G>T	ENSP00000507768.1:p.Cys1148Phe
ENST00000683153.1:n.3671G>T
ENST00000683365.1:n.3617G>T
ENST00000683377.1:n.3515G>T
ENST00000683456.1:c.*583G>T	ENSP00000508318.1:n.*583G>T
ENST00000683522.1:n.3515G>T
ENST00000683562.1:c.*1615G>T	ENSP00000508265.1:n.*1615G>T
ENST00000683693.1:n.3592G>T
ENST00000683725.1:c.3446G>T	ENSP00000507496.1:p.Cys1149Phe
ENST00000684010.1:n.3510G>T
ENST00000684157.1:n.3515G>T
ENST00000684253.1:n.3418G>T
ENST00000684288.1:c.*1618G>T	ENSP00000507143.1:n.*1618G>T
ENST00000684313.1:n.2947G>T
ENST00000684332.1:n.3588G>T
ENST00000684371.1:n.3621G>T
ENST00000684404.1:n.3558G>T
ENST00000684442.1:n.3515G>T
ENST00000684555.1:c.*1658G>T	ENSP00000507705.1:n.*1658G>T
ENST00000684571.1:c.3287G>T	ENSP00000506935.1:p.Cys1096Phe
ENST00000684593.1:c.*3151G>T	ENSP00000507005.1:n.*3151G>T
ENST00000684711.1:c.*1842G>T	ENSP00000506841.1:n.*1842G>T
ENST00000302539.9:c.3449G>T	ENSP00000303960.4:p.Cys1150Phe
ENST00000389817.8:c.3446G>T MANE Select	ENSP00000374467.4:p.Cys1149Phe
ENST00000642271.1:c.3443G>T	ENSP00000493749.1:p.Cys1148Phe
ENST00000642579.1:c.1530G>T
ENST00000642611.1:n.3400G>T
ENST00000642902.1:c.3228G>T
ENST00000643260.1:c.3446G>T	ENSP00000494450.1:p.Cys1149Phe
ENST00000643562.1:c.*1422G>T	ENSP00000496124.1:n.*1422G>T
ENST00000643925.1:c.1570G>T
ENST00000644447.1:c.1802G>T	ENSP00000496282.1:p.Cys601Phe
ENST00000644484.1:c.*1701G>T	ENSP00000493558.1:n.*1701G>T
ENST00000644675.1:c.*1618G>T	ENSP00000494567.1:n.*1618G>T
ENST00000644757.1:c.*1731G>T	ENSP00000495085.1:n.*1731G>T
ENST00000644772.1:c.3512G>T	ENSP00000494321.1:p.Cys1171Phe
ENST00000645004.1:n.585G>T
ENST00000645076.1:c.2645G>T
ENST00000645417.1:c.612G>T
ENST00000645744.1:c.*1710G>T	ENSP00000494564.1:n.*1710G>T
ENST00000645760.1:c.3721G>T
ENST00000645884.1:c.*583G>T	ENSP00000495516.1:n.*583G>T
ENST00000646003.1:c.*1402G>T	ENSP00000495259.1:n.*1402G>T
ENST00000646207.1:c.*1913G>T	ENSP00000495025.1:n.*1913G>T
ENST00000646276.1:c.*1719G>T	ENSP00000496070.1:n.*1719G>T
ENST00000646592.1:c.2752G>T
ENST00000646902.1:c.3443G>T	ENSP00000494101.1:p.Cys1148Phe
ENST00000646993.1:c.*1842G>T	ENSP00000493720.1:n.*1842G>T
ENST00000647013.1:c.3452G>T	ENSP00000496741.1:n.3452G>T
ENST00000647015.1:c.3197G>T	ENSP00000495389.1:p.Cys1066Phe
ENST00000647086.1:c.*3176G>T	ENSP00000493677.1:n.*3176G>T
ENST00000647158.1:c.*1587G>T	ENSP00000495744.1:n.*1587G>T
ENST00000302539.8:c.3449G>T	ENSP00000303960.4:p.Cys1150Phe
ENST00000389817.7:c.3446G>T	ENSP00000374467.3:p.Cys1149Phe
ENST00000524561.1:n.578G>T
ENST00000527905.5:c.*322G>T	ENSP00000431653.1:n.*322G>T
NM_000352.4:c.3446G>T	NP_000343.2:p.Cys1149Phe
NM_001287174.1:c.3449G>T	NP_001274103.1:p.Cys1150Phe
XM_011520331.1:c.3446G>T	XP_011518633.1:p.Cys1149Phe
XM_011520332.1:c.3449G>T	XP_011518634.1:p.Cys1150Phe
XM_011520333.1:c.1946G>T	XP_011518635.1:p.Cys649Phe
XR_930890.1:n.3512G>T
XR_930892.1:n.3412G>T
XR_930893.1:n.3409G>T
NM_001351295.1:c.3512G>T	NP_001338224.1:p.Cys1171Phe
NM_001351296.1:c.3446G>T	NP_001338225.1:p.Cys1149Phe
NM_001351297.1:c.3443G>T	NP_001338226.1:p.Cys1148Phe
NR_147094.1:n.3595G>T
XM_017018197.2:c.3515G>T	XP_016873686.1:p.Cys1172Phe
XM_017018199.1:c.3512G>T	XP_016873688.1:p.Cys1171Phe
XM_017018201.2:c.3515G>T	XP_016873690.1:p.Cys1172Phe
XM_017018202.1:c.2012G>T	XP_016873691.1:p.Cys671Phe
XM_017018204.1:c.1403G>T	XP_016873693.1:p.Cys468Phe
XM_024448668.1:c.1814G>T	XP_024304436.1:p.Cys605Phe
XR_001747945.2:n.3587G>T
XR_001747946.2:n.3518G>T
XR_002957189.1:n.3667G>T
NM_000352.6:c.3446G>T MANE Select	NP_000343.2:p.Cys1149Phe
NM_001287174.2:c.3449G>T	NP_001274103.1:p.Cys1150Phe
NM_001351295.2:c.3512G>T	NP_001338224.1:p.Cys1171Phe
NM_001351296.2:c.3446G>T	NP_001338225.1:p.Cys1149Phe
NM_001351297.2:c.3443G>T	NP_001338226.1:p.Cys1148Phe
NR_147094.2:n.3595G>T
NM_001287174.3:c.3449G>T	NP_001274103.1:p.Cys1150Phe