Canonical Allele Identifier: CA379798103

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426138T>C (hg19) ; chr11:g.17404591T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404591T>C , CM000673.2:g.17404591T>C	GRCh38
NC_000011.9:g.17426138T>C , CM000673.1:g.17426138T>C	GRCh37
NC_000011.8:g.17382714T>C	NCBI36
NG_008867.1:g.77312A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3047A>G
ENST00000528374.2:c.57A>G
ENST00000529967.6:n.1817A>G
ENST00000532220.2:n.1210A>G
ENST00000642611.2:n.3547A>G
ENST00000645004.2:n.977A>G
ENST00000682051.1:n.3494A>G
ENST00000682110.1:n.3547A>G
ENST00000682140.1:c.3475A>G	ENSP00000507829.1:p.Thr1159Ala
ENST00000682185.1:n.4783A>G
ENST00000682204.1:c.*1616A>G	ENSP00000507094.1:n.*1616A>G
ENST00000682215.1:n.3544A>G
ENST00000682288.1:c.*1909A>G	ENSP00000507506.1:n.*1909A>G
ENST00000682442.1:n.3767A>G
ENST00000682528.1:n.3624A>G
ENST00000682673.1:n.3491A>G
ENST00000682805.1:n.3544A>G
ENST00000682965.1:c.3396+903A>G	ENSP00000508229.1:n.3396+903A>G
ENST00000683093.1:n.3646A>G
ENST00000683136.1:c.3475A>G	ENSP00000507768.1:p.Thr1159Ala
ENST00000683153.1:n.3703A>G
ENST00000683365.1:n.3649A>G
ENST00000683377.1:n.3547A>G
ENST00000683456.1:c.*615A>G	ENSP00000508318.1:n.*615A>G
ENST00000683522.1:n.3547A>G
ENST00000683562.1:c.*1647A>G	ENSP00000508265.1:n.*1647A>G
ENST00000683693.1:n.3624A>G
ENST00000683725.1:c.3478A>G	ENSP00000507496.1:p.Thr1160Ala
ENST00000684010.1:n.3542A>G
ENST00000684157.1:n.3547A>G
ENST00000684253.1:n.3450A>G
ENST00000684288.1:c.*1650A>G	ENSP00000507143.1:n.*1650A>G
ENST00000684313.1:n.2979A>G
ENST00000684332.1:n.3620A>G
ENST00000684371.1:n.3653A>G
ENST00000684404.1:n.3590A>G
ENST00000684442.1:n.3547A>G
ENST00000684555.1:c.*1690A>G	ENSP00000507705.1:n.*1690A>G
ENST00000684571.1:c.3319A>G	ENSP00000506935.1:p.Thr1107Ala
ENST00000684593.1:c.*3183A>G	ENSP00000507005.1:n.*3183A>G
ENST00000684711.1:c.*1874A>G	ENSP00000506841.1:n.*1874A>G
ENST00000302539.9:c.3481A>G	ENSP00000303960.4:p.Thr1161Ala
ENST00000389817.8:c.3478A>G MANE Select	ENSP00000374467.4:p.Thr1160Ala
ENST00000642271.1:c.3475A>G	ENSP00000493749.1:p.Thr1159Ala
ENST00000642579.1:c.1562A>G
ENST00000642611.1:n.3432A>G
ENST00000642902.1:c.3260A>G
ENST00000643260.1:c.3478A>G	ENSP00000494450.1:p.Thr1160Ala
ENST00000643562.1:c.*1454A>G	ENSP00000496124.1:n.*1454A>G
ENST00000643925.1:c.1602A>G
ENST00000644447.1:c.1834A>G	ENSP00000496282.1:p.Thr612Ala
ENST00000644484.1:c.*1733A>G	ENSP00000493558.1:n.*1733A>G
ENST00000644675.1:c.*1650A>G	ENSP00000494567.1:n.*1650A>G
ENST00000644757.1:c.*1763A>G	ENSP00000495085.1:n.*1763A>G
ENST00000644772.1:c.3544A>G	ENSP00000494321.1:p.Thr1182Ala
ENST00000645004.1:n.617A>G
ENST00000645076.1:c.2677A>G
ENST00000645417.1:c.644A>G
ENST00000645744.1:c.*1742A>G	ENSP00000494564.1:n.*1742A>G
ENST00000645760.1:c.3753A>G
ENST00000645884.1:c.*615A>G	ENSP00000495516.1:n.*615A>G
ENST00000646003.1:c.*1434A>G	ENSP00000495259.1:n.*1434A>G
ENST00000646207.1:c.*1945A>G	ENSP00000495025.1:n.*1945A>G
ENST00000646276.1:c.*1751A>G	ENSP00000496070.1:n.*1751A>G
ENST00000646592.1:c.2784A>G
ENST00000646902.1:c.3475A>G	ENSP00000494101.1:p.Thr1159Ala
ENST00000646993.1:c.*1874A>G	ENSP00000493720.1:n.*1874A>G
ENST00000647013.1:c.3484A>G	ENSP00000496741.1:n.3484A>G
ENST00000647015.1:c.3229A>G	ENSP00000495389.1:p.Thr1077Ala
ENST00000647086.1:c.*3208A>G	ENSP00000493677.1:n.*3208A>G
ENST00000647158.1:c.*1619A>G	ENSP00000495744.1:n.*1619A>G
ENST00000302539.8:c.3481A>G	ENSP00000303960.4:p.Thr1161Ala
ENST00000389817.7:c.3478A>G	ENSP00000374467.3:p.Thr1160Ala
ENST00000524561.1:n.610A>G
ENST00000527905.5:c.*354A>G	ENSP00000431653.1:n.*354A>G
NM_000352.4:c.3478A>G	NP_000343.2:p.Thr1160Ala
NM_001287174.1:c.3481A>G	NP_001274103.1:p.Thr1161Ala
XM_011520331.1:c.3478A>G	XP_011518633.1:p.Thr1160Ala
XM_011520332.1:c.3481A>G	XP_011518634.1:p.Thr1161Ala
XM_011520333.1:c.1978A>G	XP_011518635.1:p.Thr660Ala
XR_930890.1:n.3544A>G
XR_930892.1:n.3444A>G
XR_930893.1:n.3441A>G
NM_001351295.1:c.3544A>G	NP_001338224.1:p.Thr1182Ala
NM_001351296.1:c.3478A>G	NP_001338225.1:p.Thr1160Ala
NM_001351297.1:c.3475A>G	NP_001338226.1:p.Thr1159Ala
NR_147094.1:n.3627A>G
XM_017018197.2:c.3547A>G	XP_016873686.1:p.Thr1183Ala
XM_017018199.1:c.3544A>G	XP_016873688.1:p.Thr1182Ala
XM_017018201.2:c.3547A>G	XP_016873690.1:p.Thr1183Ala
XM_017018202.1:c.2044A>G	XP_016873691.1:p.Thr682Ala
XM_017018204.1:c.1435A>G	XP_016873693.1:p.Thr479Ala
XM_024448668.1:c.1846A>G	XP_024304436.1:p.Thr616Ala
XR_001747945.2:n.3619A>G
XR_001747946.2:n.3550A>G
XR_002957189.1:n.3699A>G
NM_000352.6:c.3478A>G MANE Select	NP_000343.2:p.Thr1160Ala
NM_001287174.2:c.3481A>G	NP_001274103.1:p.Thr1161Ala
NM_001351295.2:c.3544A>G	NP_001338224.1:p.Thr1182Ala
NM_001351296.2:c.3478A>G	NP_001338225.1:p.Thr1160Ala
NM_001351297.2:c.3475A>G	NP_001338226.1:p.Thr1159Ala
NR_147094.2:n.3627A>G
NM_001287174.3:c.3481A>G	NP_001274103.1:p.Thr1161Ala