Canonical Allele Identifier: CA473298046

Gene: ABCC8

Linked Data

• COSMIC: COSM358510
• MyVariant Identifiers: chr11:g.17415298G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393751G>A , CM000673.2:g.17393751G>A	GRCh38
NC_000011.9:g.17415298G>A , CM000673.1:g.17415298G>A	GRCh37
NC_000011.8:g.17371874G>A	NCBI36
NG_008867.1:g.88152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4155C>T
ENST00000526037.6:n.489C>T
ENST00000528374.2:c.1145C>T
ENST00000529967.6:n.2893C>T
ENST00000532220.2:n.3787C>T
ENST00000642611.2:n.5887C>T
ENST00000644057.2:n.1130C>T
ENST00000645004.2:n.2053C>T
ENST00000682051.1:n.4716C>T
ENST00000682110.1:n.4769C>T
ENST00000682140.1:c.*340C>T	ENSP00000507829.1:n.*340C>T
ENST00000682185.1:n.5859C>T
ENST00000682204.1:c.*2692C>T	ENSP00000507094.1:n.*2692C>T
ENST00000682215.1:n.5136C>T
ENST00000682288.1:c.*2985C>T	ENSP00000507506.1:n.*2985C>T
ENST00000682442.1:n.4989C>T
ENST00000682528.1:n.4846C>T
ENST00000682673.1:n.4713C>T
ENST00000682805.1:n.5174C>T
ENST00000682965.1:c.*976C>T	ENSP00000508229.1:n.*976C>T
ENST00000683093.1:n.5749C>T
ENST00000683136.1:c.4437C>T	ENSP00000507768.1:p.Ile1479=
ENST00000683153.1:n.4811C>T
ENST00000683365.1:n.4871C>T
ENST00000683377.1:n.4665C>T
ENST00000683456.1:c.*1691C>T	ENSP00000508318.1:n.*1691C>T
ENST00000683522.1:n.4851C>T
ENST00000683562.1:c.*2619C>T	ENSP00000508265.1:n.*2619C>T
ENST00000683693.1:n.6230C>T
ENST00000683725.1:c.*19C>T	ENSP00000507496.1:n.*19C>T
ENST00000684010.1:n.4764C>T
ENST00000684014.1:n.741C>T
ENST00000684157.1:n.5754C>T
ENST00000684253.1:n.4672C>T
ENST00000684288.1:c.*2726C>T	ENSP00000507143.1:n.*2726C>T
ENST00000684313.1:n.4201C>T
ENST00000684332.1:n.4842C>T
ENST00000684371.1:n.4875C>T
ENST00000684404.1:n.5797C>T
ENST00000684442.1:n.4993C>T
ENST00000684555.1:c.*2766C>T	ENSP00000507705.1:n.*2766C>T
ENST00000684571.1:c.4395C>T	ENSP00000506935.1:p.Ile1465=
ENST00000684593.1:c.*4259C>T	ENSP00000507005.1:n.*4259C>T
ENST00000684711.1:c.*2950C>T	ENSP00000506841.1:n.*2950C>T
ENST00000302539.9:c.4557C>T	ENSP00000303960.4:p.Ile1519=
ENST00000389817.8:c.4554C>T MANE Select	ENSP00000374467.4:p.Ile1518=
ENST00000642271.1:c.4551C>T	ENSP00000493749.1:p.Ile1517=
ENST00000642579.1:c.2608C>T
ENST00000642611.1:n.5772C>T
ENST00000642902.1:c.4336C>T
ENST00000643260.1:c.4554C>T	ENSP00000494450.1:p.Ile1518=
ENST00000643562.1:c.*2676C>T	ENSP00000496124.1:n.*2676C>T
ENST00000643925.1:c.3185+515C>T
ENST00000644057.1:n.713C>T
ENST00000644484.1:c.*3940C>T	ENSP00000493558.1:n.*3940C>T
ENST00000644675.1:c.*2726C>T	ENSP00000494567.1:n.*2726C>T
ENST00000644757.1:c.*3203-771C>T	ENSP00000495085.1:n.*3203-771C>T
ENST00000644772.1:c.4620C>T	ENSP00000494321.1:p.Ile1540=
ENST00000645004.1:n.2247C>T
ENST00000645076.1:c.3649C>T
ENST00000645417.1:c.1742C>T
ENST00000645744.1:c.*4239C>T	ENSP00000494564.1:n.*4239C>T
ENST00000645760.1:c.4975C>T
ENST00000645884.1:c.*1837C>T	ENSP00000495516.1:n.*1837C>T
ENST00000646003.1:c.*2576C>T	ENSP00000495259.1:n.*2576C>T
ENST00000646207.1:c.*3391C>T	ENSP00000495025.1:n.*3391C>T
ENST00000646276.1:c.*3958C>T	ENSP00000496070.1:n.*3958C>T
ENST00000646592.1:c.3860C>T
ENST00000646902.1:c.4521C>T	ENSP00000494101.1:p.Ile1507=
ENST00000646993.1:c.*2992C>T	ENSP00000493720.1:n.*2992C>T
ENST00000647015.1:c.4305C>T	ENSP00000495389.1:p.Ile1435=
ENST00000647086.1:c.*4140C>T	ENSP00000493677.1:n.*4140C>T
ENST00000647158.1:c.*2841C>T	ENSP00000495744.1:n.*2841C>T
ENST00000302539.8:c.4557C>T	ENSP00000303960.4:p.Ile1519=
ENST00000389817.7:c.4554C>T	ENSP00000374467.3:p.Ile1518=
ENST00000525022.1:n.449C>T
ENST00000526037.5:n.314C>T
ENST00000526168.5:c.342C>T
ENST00000531642.5:c.585C>T
NM_000352.4:c.4554C>T	NP_000343.2:p.Ile1518=
NM_001287174.1:c.4557C>T	NP_001274103.1:p.Ile1519=
XM_011520331.1:c.4554C>T	XP_011518633.1:p.Ile1518=
XM_011520333.1:c.3054C>T	XP_011518635.1:p.Ile1018=
XR_930890.1:n.4516C>T
NM_001351295.1:c.4620C>T	NP_001338224.1:p.Ile1540=
NM_001351296.1:c.4554C>T	NP_001338225.1:p.Ile1518=
NM_001351297.1:c.4551C>T	NP_001338226.1:p.Ile1517=
NR_147094.1:n.4849C>T
XM_017018197.2:c.4623C>T	XP_016873686.1:p.Ile1541=
XM_017018199.1:c.4620C>T	XP_016873688.1:p.Ile1540=
XM_017018202.1:c.3120C>T	XP_016873691.1:p.Ile1040=
XM_017018204.1:c.2511C>T	XP_016873693.1:p.Ile837=
XM_024448668.1:c.2922C>T	XP_024304436.1:p.Ile974=
XR_001747945.2:n.4591C>T
XR_001747946.2:n.4522C>T
XR_002957189.1:n.6305C>T
NM_000352.6:c.4554C>T MANE Select	NP_000343.2:p.Ile1518=
NM_001287174.2:c.4557C>T	NP_001274103.1:p.Ile1519=
NM_001351295.2:c.4620C>T	NP_001338224.1:p.Ile1540=
NM_001351296.2:c.4554C>T	NP_001338225.1:p.Ile1518=
NM_001351297.2:c.4551C>T	NP_001338226.1:p.Ile1517=
NR_147094.2:n.4849C>T
NM_001287174.3:c.4557C>T	NP_001274103.1:p.Ile1519=