Canonical Allele Identifier: CA379801111

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406629-G-A
• MyVariant Identifiers: chr11:g.17428176G>A (hg19) ; chr11:g.17406629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406629G>A , CM000673.2:g.17406629G>A	GRCh38
NC_000011.9:g.17428176G>A , CM000673.1:g.17428176G>A	GRCh37
NC_000011.8:g.17384752G>A	NCBI36
NG_008867.1:g.75274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2891C>T
ENST00000529967.6:n.1661C>T
ENST00000532220.2:n.1054C>T
ENST00000642611.2:n.3391C>T
ENST00000645004.2:n.821C>T
ENST00000682051.1:n.3338C>T
ENST00000682110.1:n.3391C>T
ENST00000682140.1:c.3319C>T	ENSP00000507829.1:p.Pro1107Ser
ENST00000682185.1:n.4627C>T
ENST00000682204.1:c.*1460C>T	ENSP00000507094.1:n.*1460C>T
ENST00000682215.1:n.3388C>T
ENST00000682288.1:c.*1753C>T	ENSP00000507506.1:n.*1753C>T
ENST00000682442.1:n.3611C>T
ENST00000682528.1:n.3468C>T
ENST00000682673.1:n.3335C>T
ENST00000682805.1:n.3388C>T
ENST00000682965.1:c.3319C>T	ENSP00000508229.1:p.Pro1107Ser
ENST00000683093.1:n.3490C>T
ENST00000683136.1:c.3319C>T	ENSP00000507768.1:p.Pro1107Ser
ENST00000683153.1:n.3547C>T
ENST00000683365.1:n.3493C>T
ENST00000683377.1:n.3391C>T
ENST00000683456.1:c.*459C>T	ENSP00000508318.1:n.*459C>T
ENST00000683522.1:n.3391C>T
ENST00000683562.1:c.*1491C>T	ENSP00000508265.1:n.*1491C>T
ENST00000683693.1:n.3468C>T
ENST00000683725.1:c.3322C>T	ENSP00000507496.1:p.Pro1108Ser
ENST00000684010.1:n.3386C>T
ENST00000684157.1:n.3391C>T
ENST00000684253.1:n.3294C>T
ENST00000684288.1:c.*1494C>T	ENSP00000507143.1:n.*1494C>T
ENST00000684313.1:n.2823C>T
ENST00000684332.1:n.3464C>T
ENST00000684371.1:n.3497C>T
ENST00000684404.1:n.3434C>T
ENST00000684442.1:n.3391C>T
ENST00000684555.1:c.*1534C>T	ENSP00000507705.1:n.*1534C>T
ENST00000684571.1:c.3163C>T	ENSP00000506935.1:p.Pro1055Ser
ENST00000684593.1:c.*3027C>T	ENSP00000507005.1:n.*3027C>T
ENST00000684711.1:c.*1718C>T	ENSP00000506841.1:n.*1718C>T
ENST00000302539.9:c.3325C>T	ENSP00000303960.4:p.Pro1109Ser
ENST00000389817.8:c.3322C>T MANE Select	ENSP00000374467.4:p.Pro1108Ser
ENST00000642271.1:c.3319C>T	ENSP00000493749.1:p.Pro1107Ser
ENST00000642579.1:c.1406C>T
ENST00000642611.1:n.3276C>T
ENST00000642902.1:c.3104C>T
ENST00000643260.1:c.3322C>T	ENSP00000494450.1:p.Pro1108Ser
ENST00000643562.1:c.*1298C>T	ENSP00000496124.1:n.*1298C>T
ENST00000643925.1:c.1446C>T
ENST00000644447.1:c.1678C>T	ENSP00000496282.1:p.Pro560Ser
ENST00000644484.1:c.*1577C>T	ENSP00000493558.1:n.*1577C>T
ENST00000644542.1:c.*3126C>T	ENSP00000495532.1:n.*3126C>T
ENST00000644675.1:c.*1494C>T	ENSP00000494567.1:n.*1494C>T
ENST00000644757.1:c.*1607C>T	ENSP00000495085.1:n.*1607C>T
ENST00000644772.1:c.3388C>T	ENSP00000494321.1:p.Pro1130Ser
ENST00000645004.1:n.461C>T
ENST00000645076.1:c.2521C>T
ENST00000645417.1:c.488C>T
ENST00000645744.1:c.*1586C>T	ENSP00000494564.1:n.*1586C>T
ENST00000645760.1:c.3597C>T
ENST00000645884.1:c.*459C>T	ENSP00000495516.1:n.*459C>T
ENST00000646003.1:c.*1278C>T	ENSP00000495259.1:n.*1278C>T
ENST00000646207.1:c.*1789C>T	ENSP00000495025.1:n.*1789C>T
ENST00000646276.1:c.*1595C>T	ENSP00000496070.1:n.*1595C>T
ENST00000646592.1:c.2628C>T
ENST00000646902.1:c.3319C>T	ENSP00000494101.1:p.Pro1107Ser
ENST00000646993.1:c.*1718C>T	ENSP00000493720.1:n.*1718C>T
ENST00000647013.1:c.3328C>T	ENSP00000496741.1:n.3328C>T
ENST00000647015.1:c.3073C>T	ENSP00000495389.1:p.Pro1025Ser
ENST00000647086.1:c.*3052C>T	ENSP00000493677.1:n.*3052C>T
ENST00000647158.1:c.*1463C>T	ENSP00000495744.1:n.*1463C>T
ENST00000302539.8:c.3325C>T	ENSP00000303960.4:p.Pro1109Ser
ENST00000389817.7:c.3322C>T	ENSP00000374467.3:p.Pro1108Ser
ENST00000524561.1:n.454C>T
ENST00000527905.5:c.*198C>T	ENSP00000431653.1:n.*198C>T
NM_000352.4:c.3322C>T	NP_000343.2:p.Pro1108Ser
NM_001287174.1:c.3325C>T	NP_001274103.1:p.Pro1109Ser
XM_011520331.1:c.3322C>T	XP_011518633.1:p.Pro1108Ser
XM_011520332.1:c.3325C>T	XP_011518634.1:p.Pro1109Ser
XM_011520333.1:c.1822C>T	XP_011518635.1:p.Pro608Ser
XR_930890.1:n.3388C>T
XR_930891.1:n.3388C>T
XR_930892.1:n.3288C>T
XR_930893.1:n.3285C>T
NM_001351295.1:c.3388C>T	NP_001338224.1:p.Pro1130Ser
NM_001351296.1:c.3322C>T	NP_001338225.1:p.Pro1108Ser
NM_001351297.1:c.3319C>T	NP_001338226.1:p.Pro1107Ser
NR_147094.1:n.3471C>T
XM_017018197.2:c.3391C>T	XP_016873686.1:p.Pro1131Ser
XM_017018199.1:c.3388C>T	XP_016873688.1:p.Pro1130Ser
XM_017018201.2:c.3391C>T	XP_016873690.1:p.Pro1131Ser
XM_017018202.1:c.1888C>T	XP_016873691.1:p.Pro630Ser
XM_017018204.1:c.1279C>T	XP_016873693.1:p.Pro427Ser
XM_024448668.1:c.1690C>T	XP_024304436.1:p.Pro564Ser
XR_001747945.2:n.3463C>T
XR_001747946.2:n.3394C>T
XR_002957189.1:n.3543C>T
NM_000352.6:c.3322C>T MANE Select	NP_000343.2:p.Pro1108Ser
NM_001287174.2:c.3325C>T	NP_001274103.1:p.Pro1109Ser
NM_001351295.2:c.3388C>T	NP_001338224.1:p.Pro1130Ser
NM_001351296.2:c.3322C>T	NP_001338225.1:p.Pro1108Ser
NM_001351297.2:c.3319C>T	NP_001338226.1:p.Pro1107Ser
NR_147094.2:n.3471C>T
NM_001287174.3:c.3325C>T	NP_001274103.1:p.Pro1109Ser