Canonical Allele Identifier: CA379798462

Gene: ABCC8

Linked Data

• dbSNP Id: rs761730014
• MyVariant Identifiers: chr11:g.17426179G>C (hg19) ; chr11:g.17404632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404632G>C , CM000673.2:g.17404632G>C	GRCh38
NC_000011.9:g.17426179G>C , CM000673.1:g.17426179G>C	GRCh37
NC_000011.8:g.17382755G>C	NCBI36
NG_008867.1:g.77271C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3006C>G
ENST00000528374.2:c.16C>G
ENST00000529967.6:n.1776C>G
ENST00000532220.2:n.1169C>G
ENST00000642611.2:n.3506C>G
ENST00000645004.2:n.936C>G
ENST00000682051.1:n.3453C>G
ENST00000682110.1:n.3506C>G
ENST00000682140.1:c.3434C>G	ENSP00000507829.1:p.Thr1145Ser
ENST00000682185.1:n.4742C>G
ENST00000682204.1:c.*1575C>G	ENSP00000507094.1:n.*1575C>G
ENST00000682215.1:n.3503C>G
ENST00000682288.1:c.*1868C>G	ENSP00000507506.1:n.*1868C>G
ENST00000682442.1:n.3726C>G
ENST00000682528.1:n.3583C>G
ENST00000682673.1:n.3450C>G
ENST00000682805.1:n.3503C>G
ENST00000682965.1:c.3396+862C>G	ENSP00000508229.1:n.3396+862C>G
ENST00000683093.1:n.3605C>G
ENST00000683136.1:c.3434C>G	ENSP00000507768.1:p.Thr1145Ser
ENST00000683153.1:n.3662C>G
ENST00000683365.1:n.3608C>G
ENST00000683377.1:n.3506C>G
ENST00000683456.1:c.*574C>G	ENSP00000508318.1:n.*574C>G
ENST00000683522.1:n.3506C>G
ENST00000683562.1:c.*1606C>G	ENSP00000508265.1:n.*1606C>G
ENST00000683693.1:n.3583C>G
ENST00000683725.1:c.3437C>G	ENSP00000507496.1:p.Thr1146Ser
ENST00000684010.1:n.3501C>G
ENST00000684157.1:n.3506C>G
ENST00000684253.1:n.3409C>G
ENST00000684288.1:c.*1609C>G	ENSP00000507143.1:n.*1609C>G
ENST00000684313.1:n.2938C>G
ENST00000684332.1:n.3579C>G
ENST00000684371.1:n.3612C>G
ENST00000684404.1:n.3549C>G
ENST00000684442.1:n.3506C>G
ENST00000684555.1:c.*1649C>G	ENSP00000507705.1:n.*1649C>G
ENST00000684571.1:c.3278C>G	ENSP00000506935.1:p.Thr1093Ser
ENST00000684593.1:c.*3142C>G	ENSP00000507005.1:n.*3142C>G
ENST00000684711.1:c.*1833C>G	ENSP00000506841.1:n.*1833C>G
ENST00000302539.9:c.3440C>G	ENSP00000303960.4:p.Thr1147Ser
ENST00000389817.8:c.3437C>G MANE Select	ENSP00000374467.4:p.Thr1146Ser
ENST00000642271.1:c.3434C>G	ENSP00000493749.1:p.Thr1145Ser
ENST00000642579.1:c.1521C>G
ENST00000642611.1:n.3391C>G
ENST00000642902.1:c.3219C>G
ENST00000643260.1:c.3437C>G	ENSP00000494450.1:p.Thr1146Ser
ENST00000643562.1:c.*1413C>G	ENSP00000496124.1:n.*1413C>G
ENST00000643925.1:c.1561C>G
ENST00000644447.1:c.1793C>G	ENSP00000496282.1:p.Thr598Ser
ENST00000644484.1:c.*1692C>G	ENSP00000493558.1:n.*1692C>G
ENST00000644675.1:c.*1609C>G	ENSP00000494567.1:n.*1609C>G
ENST00000644757.1:c.*1722C>G	ENSP00000495085.1:n.*1722C>G
ENST00000644772.1:c.3503C>G	ENSP00000494321.1:p.Thr1168Ser
ENST00000645004.1:n.576C>G
ENST00000645076.1:c.2636C>G
ENST00000645417.1:c.603C>G
ENST00000645744.1:c.*1701C>G	ENSP00000494564.1:n.*1701C>G
ENST00000645760.1:c.3712C>G
ENST00000645884.1:c.*574C>G	ENSP00000495516.1:n.*574C>G
ENST00000646003.1:c.*1393C>G	ENSP00000495259.1:n.*1393C>G
ENST00000646207.1:c.*1904C>G	ENSP00000495025.1:n.*1904C>G
ENST00000646276.1:c.*1710C>G	ENSP00000496070.1:n.*1710C>G
ENST00000646592.1:c.2743C>G
ENST00000646902.1:c.3434C>G	ENSP00000494101.1:p.Thr1145Ser
ENST00000646993.1:c.*1833C>G	ENSP00000493720.1:n.*1833C>G
ENST00000647013.1:c.3443C>G	ENSP00000496741.1:n.3443C>G
ENST00000647015.1:c.3188C>G	ENSP00000495389.1:p.Thr1063Ser
ENST00000647086.1:c.*3167C>G	ENSP00000493677.1:n.*3167C>G
ENST00000647158.1:c.*1578C>G	ENSP00000495744.1:n.*1578C>G
ENST00000302539.8:c.3440C>G	ENSP00000303960.4:p.Thr1147Ser
ENST00000389817.7:c.3437C>G	ENSP00000374467.3:p.Thr1146Ser
ENST00000524561.1:n.569C>G
ENST00000527905.5:c.*313C>G	ENSP00000431653.1:n.*313C>G
NM_000352.4:c.3437C>G	NP_000343.2:p.Thr1146Ser
NM_001287174.1:c.3440C>G	NP_001274103.1:p.Thr1147Ser
XM_011520331.1:c.3437C>G	XP_011518633.1:p.Thr1146Ser
XM_011520332.1:c.3440C>G	XP_011518634.1:p.Thr1147Ser
XM_011520333.1:c.1937C>G	XP_011518635.1:p.Thr646Ser
XR_930890.1:n.3503C>G
XR_930892.1:n.3403C>G
XR_930893.1:n.3400C>G
NM_001351295.1:c.3503C>G	NP_001338224.1:p.Thr1168Ser
NM_001351296.1:c.3437C>G	NP_001338225.1:p.Thr1146Ser
NM_001351297.1:c.3434C>G	NP_001338226.1:p.Thr1145Ser
NR_147094.1:n.3586C>G
XM_017018197.2:c.3506C>G	XP_016873686.1:p.Thr1169Ser
XM_017018199.1:c.3503C>G	XP_016873688.1:p.Thr1168Ser
XM_017018201.2:c.3506C>G	XP_016873690.1:p.Thr1169Ser
XM_017018202.1:c.2003C>G	XP_016873691.1:p.Thr668Ser
XM_017018204.1:c.1394C>G	XP_016873693.1:p.Thr465Ser
XM_024448668.1:c.1805C>G	XP_024304436.1:p.Thr602Ser
XR_001747945.2:n.3578C>G
XR_001747946.2:n.3509C>G
XR_002957189.1:n.3658C>G
NM_000352.6:c.3437C>G MANE Select	NP_000343.2:p.Thr1146Ser
NM_001287174.2:c.3440C>G	NP_001274103.1:p.Thr1147Ser
NM_001351295.2:c.3503C>G	NP_001338224.1:p.Thr1168Ser
NM_001351296.2:c.3437C>G	NP_001338225.1:p.Thr1146Ser
NM_001351297.2:c.3434C>G	NP_001338226.1:p.Thr1145Ser
NR_147094.2:n.3586C>G
NM_001287174.3:c.3440C>G	NP_001274103.1:p.Thr1147Ser