Canonical Allele Identifier: CA473298017

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415256C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393709C>G , CM000673.2:g.17393709C>G	GRCh38
NC_000011.9:g.17415256C>G , CM000673.1:g.17415256C>G	GRCh37
NC_000011.8:g.17371832C>G	NCBI36
NG_008867.1:g.88194G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4197G>C
ENST00000526037.6:n.531G>C
ENST00000528374.2:c.1187G>C
ENST00000529967.6:n.2935G>C
ENST00000532220.2:n.3829G>C
ENST00000642611.2:n.5929G>C
ENST00000644057.2:n.1172G>C
ENST00000645004.2:n.2095G>C
ENST00000682051.1:n.4758G>C
ENST00000682110.1:n.4811G>C
ENST00000682140.1:c.*382G>C	ENSP00000507829.1:n.*382G>C
ENST00000682185.1:n.5901G>C
ENST00000682204.1:c.*2734G>C	ENSP00000507094.1:n.*2734G>C
ENST00000682215.1:n.5178G>C
ENST00000682288.1:c.*3027G>C	ENSP00000507506.1:n.*3027G>C
ENST00000682442.1:n.5031G>C
ENST00000682528.1:n.4888G>C
ENST00000682673.1:n.4755G>C
ENST00000682805.1:n.5216G>C
ENST00000682965.1:c.*1018G>C	ENSP00000508229.1:n.*1018G>C
ENST00000683093.1:n.5791G>C
ENST00000683136.1:c.4479G>C	ENSP00000507768.1:p.Val1493=
ENST00000683153.1:n.4853G>C
ENST00000683365.1:n.4913G>C
ENST00000683377.1:n.4707G>C
ENST00000683456.1:c.*1733G>C	ENSP00000508318.1:n.*1733G>C
ENST00000683522.1:n.4893G>C
ENST00000683562.1:c.*2661G>C	ENSP00000508265.1:n.*2661G>C
ENST00000683693.1:n.6272G>C
ENST00000683725.1:c.*61G>C	ENSP00000507496.1:n.*61G>C
ENST00000684010.1:n.4806G>C
ENST00000684014.1:n.783G>C
ENST00000684157.1:n.5796G>C
ENST00000684253.1:n.4714G>C
ENST00000684288.1:c.*2768G>C	ENSP00000507143.1:n.*2768G>C
ENST00000684313.1:n.4243G>C
ENST00000684332.1:n.4884G>C
ENST00000684371.1:n.4917G>C
ENST00000684404.1:n.5839G>C
ENST00000684442.1:n.5035G>C
ENST00000684555.1:c.*2808G>C	ENSP00000507705.1:n.*2808G>C
ENST00000684571.1:c.4437G>C	ENSP00000506935.1:p.Val1479=
ENST00000684593.1:c.*4301G>C	ENSP00000507005.1:n.*4301G>C
ENST00000684711.1:c.*2992G>C	ENSP00000506841.1:n.*2992G>C
ENST00000302539.9:c.4599G>C	ENSP00000303960.4:p.Val1533=
ENST00000389817.8:c.4596G>C MANE Select	ENSP00000374467.4:p.Val1532=
ENST00000642271.1:c.4593G>C	ENSP00000493749.1:p.Val1531=
ENST00000642579.1:c.2650G>C
ENST00000642611.1:n.5814G>C
ENST00000642902.1:c.4378G>C
ENST00000643260.1:c.4596G>C	ENSP00000494450.1:p.Val1532=
ENST00000643562.1:c.*2718G>C	ENSP00000496124.1:n.*2718G>C
ENST00000643925.1:c.3185+557G>C
ENST00000644057.1:n.755G>C
ENST00000644484.1:c.*3982G>C	ENSP00000493558.1:n.*3982G>C
ENST00000644675.1:c.*2768G>C	ENSP00000494567.1:n.*2768G>C
ENST00000644757.1:c.*3203-729G>C	ENSP00000495085.1:n.*3203-729G>C
ENST00000644772.1:c.4662G>C	ENSP00000494321.1:p.Val1554=
ENST00000645004.1:n.2289G>C
ENST00000645076.1:c.3691G>C
ENST00000645417.1:c.1784G>C
ENST00000645744.1:c.*4281G>C	ENSP00000494564.1:n.*4281G>C
ENST00000645760.1:c.5017G>C
ENST00000645884.1:c.*1879G>C	ENSP00000495516.1:n.*1879G>C
ENST00000646003.1:c.*2618G>C	ENSP00000495259.1:n.*2618G>C
ENST00000646207.1:c.*3433G>C	ENSP00000495025.1:n.*3433G>C
ENST00000646276.1:c.*4000G>C	ENSP00000496070.1:n.*4000G>C
ENST00000646592.1:c.3902G>C
ENST00000646902.1:c.4563G>C	ENSP00000494101.1:p.Val1521=
ENST00000646993.1:c.*3034G>C	ENSP00000493720.1:n.*3034G>C
ENST00000647015.1:c.4347G>C	ENSP00000495389.1:p.Val1449=
ENST00000647086.1:c.*4182G>C	ENSP00000493677.1:n.*4182G>C
ENST00000647158.1:c.*2883G>C	ENSP00000495744.1:n.*2883G>C
ENST00000302539.8:c.4599G>C	ENSP00000303960.4:p.Val1533=
ENST00000389817.7:c.4596G>C	ENSP00000374467.3:p.Val1532=
ENST00000525022.1:n.491G>C
ENST00000526037.5:n.356G>C
ENST00000526168.5:c.384G>C
ENST00000531642.5:c.627G>C
NM_000352.4:c.4596G>C	NP_000343.2:p.Val1532=
NM_001287174.1:c.4599G>C	NP_001274103.1:p.Val1533=
XM_011520331.1:c.4596G>C	XP_011518633.1:p.Val1532=
XM_011520333.1:c.3096G>C	XP_011518635.1:p.Val1032=
XR_930890.1:n.4558G>C
NM_001351295.1:c.4662G>C	NP_001338224.1:p.Val1554=
NM_001351296.1:c.4596G>C	NP_001338225.1:p.Val1532=
NM_001351297.1:c.4593G>C	NP_001338226.1:p.Val1531=
NR_147094.1:n.4891G>C
XM_017018197.2:c.4665G>C	XP_016873686.1:p.Val1555=
XM_017018199.1:c.4662G>C	XP_016873688.1:p.Val1554=
XM_017018202.1:c.3162G>C	XP_016873691.1:p.Val1054=
XM_017018204.1:c.2553G>C	XP_016873693.1:p.Val851=
XM_024448668.1:c.2964G>C	XP_024304436.1:p.Val988=
XR_001747945.2:n.4633G>C
XR_001747946.2:n.4564G>C
XR_002957189.1:n.6347G>C
NM_000352.6:c.4596G>C MANE Select	NP_000343.2:p.Val1532=
NM_001287174.2:c.4599G>C	NP_001274103.1:p.Val1533=
NM_001351295.2:c.4662G>C	NP_001338224.1:p.Val1554=
NM_001351296.2:c.4596G>C	NP_001338225.1:p.Val1532=
NM_001351297.2:c.4593G>C	NP_001338226.1:p.Val1531=
NR_147094.2:n.4891G>C
NM_001287174.3:c.4599G>C	NP_001274103.1:p.Val1533=