Canonical Allele Identifier: CA218417272

Gene: ABCC8

Linked Data

• dbSNP Id: rs1048091
• MyVariant Identifiers: chr11:g.17426106C>G (hg19) ; chr11:g.17404559C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404559C>G , CM000673.2:g.17404559C>G	GRCh38
NC_000011.9:g.17426106C>G , CM000673.1:g.17426106C>G	GRCh37
NC_000011.8:g.17382682C>G	NCBI36
NG_008867.1:g.77344G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3079G>C
ENST00000528374.2:c.89G>C
ENST00000529967.6:n.1849G>C
ENST00000532220.2:n.1242G>C
ENST00000642611.2:n.3579G>C
ENST00000645004.2:n.1009G>C
ENST00000682051.1:n.3526G>C
ENST00000682110.1:n.3579G>C
ENST00000682140.1:c.3507G>C	ENSP00000507829.1:p.Leu1169=
ENST00000682185.1:n.4815G>C
ENST00000682204.1:c.*1648G>C	ENSP00000507094.1:n.*1648G>C
ENST00000682215.1:n.3576G>C
ENST00000682288.1:c.*1941G>C	ENSP00000507506.1:n.*1941G>C
ENST00000682442.1:n.3799G>C
ENST00000682528.1:n.3656G>C
ENST00000682673.1:n.3523G>C
ENST00000682805.1:n.3576G>C
ENST00000682965.1:c.3396+935G>C	ENSP00000508229.1:n.3396+935G>C
ENST00000683093.1:n.3678G>C
ENST00000683136.1:c.3507G>C	ENSP00000507768.1:p.Leu1169=
ENST00000683153.1:n.3735G>C
ENST00000683365.1:n.3681G>C
ENST00000683377.1:n.3579G>C
ENST00000683456.1:c.*647G>C	ENSP00000508318.1:n.*647G>C
ENST00000683522.1:n.3579G>C
ENST00000683562.1:c.*1679G>C	ENSP00000508265.1:n.*1679G>C
ENST00000683693.1:n.3656G>C
ENST00000683725.1:c.3510G>C	ENSP00000507496.1:p.Leu1170=
ENST00000684010.1:n.3574G>C
ENST00000684157.1:n.3579G>C
ENST00000684253.1:n.3482G>C
ENST00000684288.1:c.*1682G>C	ENSP00000507143.1:n.*1682G>C
ENST00000684313.1:n.3011G>C
ENST00000684332.1:n.3652G>C
ENST00000684371.1:n.3685G>C
ENST00000684404.1:n.3622G>C
ENST00000684442.1:n.3579G>C
ENST00000684555.1:c.*1722G>C	ENSP00000507705.1:n.*1722G>C
ENST00000684571.1:c.3351G>C	ENSP00000506935.1:p.Leu1117=
ENST00000684593.1:c.*3215G>C	ENSP00000507005.1:n.*3215G>C
ENST00000684711.1:c.*1906G>C	ENSP00000506841.1:n.*1906G>C
ENST00000302539.9:c.3513G>C	ENSP00000303960.4:p.Leu1171=
ENST00000389817.8:c.3510G>C MANE Select	ENSP00000374467.4:p.Leu1170=
ENST00000642271.1:c.3507G>C	ENSP00000493749.1:p.Leu1169=
ENST00000642579.1:c.1594G>C
ENST00000642611.1:n.3464G>C
ENST00000642902.1:c.3292G>C
ENST00000643260.1:c.3510G>C	ENSP00000494450.1:p.Leu1170=
ENST00000643562.1:c.*1486G>C	ENSP00000496124.1:n.*1486G>C
ENST00000643925.1:c.1634G>C
ENST00000644447.1:c.1866G>C	ENSP00000496282.1:p.Leu622=
ENST00000644484.1:c.*1765G>C	ENSP00000493558.1:n.*1765G>C
ENST00000644675.1:c.*1682G>C	ENSP00000494567.1:n.*1682G>C
ENST00000644757.1:c.*1795G>C	ENSP00000495085.1:n.*1795G>C
ENST00000644772.1:c.3576G>C	ENSP00000494321.1:p.Leu1192=
ENST00000645004.1:n.649G>C
ENST00000645076.1:c.2709G>C
ENST00000645417.1:c.676G>C
ENST00000645744.1:c.*1774G>C	ENSP00000494564.1:n.*1774G>C
ENST00000645760.1:c.3785G>C
ENST00000645884.1:c.*647G>C	ENSP00000495516.1:n.*647G>C
ENST00000646003.1:c.*1466G>C	ENSP00000495259.1:n.*1466G>C
ENST00000646207.1:c.*1977G>C	ENSP00000495025.1:n.*1977G>C
ENST00000646276.1:c.*1783G>C	ENSP00000496070.1:n.*1783G>C
ENST00000646592.1:c.2816G>C
ENST00000646902.1:c.3507G>C	ENSP00000494101.1:p.Leu1169=
ENST00000646993.1:c.*1906G>C	ENSP00000493720.1:n.*1906G>C
ENST00000647013.1:c.3516G>C	ENSP00000496741.1:n.3516G>C
ENST00000647015.1:c.3261G>C	ENSP00000495389.1:p.Leu1087=
ENST00000647086.1:c.*3240G>C	ENSP00000493677.1:n.*3240G>C
ENST00000647158.1:c.*1651G>C	ENSP00000495744.1:n.*1651G>C
ENST00000302539.8:c.3513G>C	ENSP00000303960.4:p.Leu1171=
ENST00000389817.7:c.3510G>C	ENSP00000374467.3:p.Leu1170=
ENST00000524561.1:n.642G>C
ENST00000527905.5:c.*386G>C	ENSP00000431653.1:n.*386G>C
ENST00000531137.1:n.3G>C
NM_000352.4:c.3510G>C	NP_000343.2:p.Leu1170=
NM_001287174.1:c.3513G>C	NP_001274103.1:p.Leu1171=
XM_011520331.1:c.3510G>C	XP_011518633.1:p.Leu1170=
XM_011520332.1:c.3513G>C	XP_011518634.1:p.Leu1171=
XM_011520333.1:c.2010G>C	XP_011518635.1:p.Leu670=
XR_930890.1:n.3576G>C
XR_930892.1:n.3476G>C
XR_930893.1:n.3473G>C
NM_001351295.1:c.3576G>C	NP_001338224.1:p.Leu1192=
NM_001351296.1:c.3510G>C	NP_001338225.1:p.Leu1170=
NM_001351297.1:c.3507G>C	NP_001338226.1:p.Leu1169=
NR_147094.1:n.3659G>C
XM_017018197.2:c.3579G>C	XP_016873686.1:p.Leu1193=
XM_017018199.1:c.3576G>C	XP_016873688.1:p.Leu1192=
XM_017018201.2:c.3579G>C	XP_016873690.1:p.Leu1193=
XM_017018202.1:c.2076G>C	XP_016873691.1:p.Leu692=
XM_017018204.1:c.1467G>C	XP_016873693.1:p.Leu489=
XM_024448668.1:c.1878G>C	XP_024304436.1:p.Leu626=
XR_001747945.2:n.3651G>C
XR_001747946.2:n.3582G>C
XR_002957189.1:n.3731G>C
NM_000352.6:c.3510G>C MANE Select	NP_000343.2:p.Leu1170=
NM_001287174.2:c.3513G>C	NP_001274103.1:p.Leu1171=
NM_001351295.2:c.3576G>C	NP_001338224.1:p.Leu1192=
NM_001351296.2:c.3510G>C	NP_001338225.1:p.Leu1170=
NM_001351297.2:c.3507G>C	NP_001338226.1:p.Leu1169=
NR_147094.2:n.3659G>C
NM_001287174.3:c.3513G>C	NP_001274103.1:p.Leu1171=