Canonical Allele Identifier: CA473298462

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418499C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396952C>G , CM000673.2:g.17396952C>G	GRCh38
NC_000011.9:g.17418499C>G , CM000673.1:g.17418499C>G	GRCh37
NC_000011.8:g.17375075C>G	NCBI36
NG_008867.1:g.84951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3684G>C
ENST00000528374.2:c.674G>C
ENST00000529967.6:n.2422G>C
ENST00000532220.2:n.2331G>C
ENST00000642611.2:n.4298G>C
ENST00000644057.2:n.526G>C
ENST00000645004.2:n.1582G>C
ENST00000682051.1:n.4245G>C
ENST00000682110.1:n.4298G>C
ENST00000682140.1:c.3985+241G>C	ENSP00000507829.1:n.3985+241G>C
ENST00000682185.1:n.5388G>C
ENST00000682204.1:c.*2221G>C	ENSP00000507094.1:n.*2221G>C
ENST00000682215.1:n.4665G>C
ENST00000682288.1:c.*2514G>C	ENSP00000507506.1:n.*2514G>C
ENST00000682442.1:n.4518G>C
ENST00000682528.1:n.4375G>C
ENST00000682673.1:n.4242G>C
ENST00000682805.1:n.4665G>C
ENST00000682965.1:c.*505G>C	ENSP00000508229.1:n.*505G>C
ENST00000683093.1:n.4397G>C
ENST00000683136.1:c.3966G>C	ENSP00000507768.1:p.Leu1322=
ENST00000683153.1:n.4340G>C
ENST00000683365.1:n.4400G>C
ENST00000683377.1:n.4298G>C
ENST00000683456.1:c.*1220G>C	ENSP00000508318.1:n.*1220G>C
ENST00000683522.1:n.4298G>C
ENST00000683562.1:c.*2252G>C	ENSP00000508265.1:n.*2252G>C
ENST00000683693.1:n.4745G>C
ENST00000683725.1:c.4083G>C	ENSP00000507496.1:p.Leu1361=
ENST00000684010.1:n.4293G>C
ENST00000684157.1:n.4298G>C
ENST00000684253.1:n.4201G>C
ENST00000684288.1:c.*2255G>C	ENSP00000507143.1:n.*2255G>C
ENST00000684313.1:n.3730G>C
ENST00000684332.1:n.4371G>C
ENST00000684371.1:n.4404G>C
ENST00000684404.1:n.4341G>C
ENST00000684442.1:n.4522G>C
ENST00000684555.1:c.*2295G>C	ENSP00000507705.1:n.*2295G>C
ENST00000684571.1:c.3924G>C	ENSP00000506935.1:p.Leu1308=
ENST00000684593.1:c.*3788G>C	ENSP00000507005.1:n.*3788G>C
ENST00000684711.1:c.*2479G>C	ENSP00000506841.1:n.*2479G>C
ENST00000302539.9:c.4086G>C	ENSP00000303960.4:p.Leu1362=
ENST00000389817.8:c.4083G>C MANE Select	ENSP00000374467.4:p.Leu1361=
ENST00000642271.1:c.4080G>C	ENSP00000493749.1:p.Leu1360=
ENST00000642579.1:c.2137G>C
ENST00000642611.1:n.4183G>C
ENST00000642902.1:c.3865G>C
ENST00000643260.1:c.4083G>C	ENSP00000494450.1:p.Leu1361=
ENST00000643562.1:c.*2205G>C	ENSP00000496124.1:n.*2205G>C
ENST00000643925.1:c.2723G>C
ENST00000644057.1:n.160G>C
ENST00000644484.1:c.*2484G>C	ENSP00000493558.1:n.*2484G>C
ENST00000644675.1:c.*2255G>C	ENSP00000494567.1:n.*2255G>C
ENST00000644757.1:c.*2514G>C	ENSP00000495085.1:n.*2514G>C
ENST00000644772.1:c.4149G>C	ENSP00000494321.1:p.Leu1383=
ENST00000645004.1:n.1738G>C
ENST00000645076.1:c.3282G>C
ENST00000645417.1:c.1271G>C
ENST00000645744.1:c.*2863G>C	ENSP00000494564.1:n.*2863G>C
ENST00000645760.1:c.4504G>C
ENST00000645884.1:c.*1366G>C	ENSP00000495516.1:n.*1366G>C
ENST00000646003.1:c.*2185G>C	ENSP00000495259.1:n.*2185G>C
ENST00000646207.1:c.*2920G>C	ENSP00000495025.1:n.*2920G>C
ENST00000646276.1:c.*2502G>C	ENSP00000496070.1:n.*2502G>C
ENST00000646592.1:c.3389G>C
ENST00000646902.1:c.4050G>C	ENSP00000494101.1:p.Leu1350=
ENST00000646993.1:c.*2625G>C	ENSP00000493720.1:n.*2625G>C
ENST00000647013.1:c.4089G>C	ENSP00000496741.1:n.4089G>C
ENST00000647015.1:c.3834G>C	ENSP00000495389.1:p.Leu1278=
ENST00000647086.1:c.*3669G>C	ENSP00000493677.1:n.*3669G>C
ENST00000647158.1:c.*2370G>C	ENSP00000495744.1:n.*2370G>C
ENST00000302539.8:c.4086G>C	ENSP00000303960.4:p.Leu1362=
ENST00000389817.7:c.4083G>C	ENSP00000374467.3:p.Leu1361=
ENST00000527905.5:c.*1105G>C	ENSP00000431653.1:n.*1105G>C
ENST00000528374.1:c.565G>C
ENST00000531137.1:n.648G>C
ENST00000531891.1:c.421G>C
ENST00000532220.1:n.557G>C
NM_000352.4:c.4083G>C	NP_000343.2:p.Leu1361=
NM_001287174.1:c.4086G>C	NP_001274103.1:p.Leu1362=
XM_011520331.1:c.4083G>C	XP_011518633.1:p.Leu1361=
XM_011520332.1:c.4086G>C	XP_011518634.1:p.Leu1362=
XM_011520333.1:c.2583G>C	XP_011518635.1:p.Leu861=
XR_930890.1:n.4149G>C
NM_001351295.1:c.4149G>C	NP_001338224.1:p.Leu1383=
NM_001351296.1:c.4083G>C	NP_001338225.1:p.Leu1361=
NM_001351297.1:c.4080G>C	NP_001338226.1:p.Leu1360=
NR_147094.1:n.4378G>C
XM_017018197.2:c.4152G>C	XP_016873686.1:p.Leu1384=
XM_017018199.1:c.4149G>C	XP_016873688.1:p.Leu1383=
XM_017018201.2:c.4152G>C	XP_016873690.1:p.Leu1384=
XM_017018202.1:c.2649G>C	XP_016873691.1:p.Leu883=
XM_017018204.1:c.2040G>C	XP_016873693.1:p.Leu680=
XM_024448668.1:c.2451G>C	XP_024304436.1:p.Leu817=
XR_001747945.2:n.4224G>C
XR_001747946.2:n.4155G>C
XR_002957189.1:n.4820G>C
NM_000352.6:c.4083G>C MANE Select	NP_000343.2:p.Leu1361=
NM_001287174.2:c.4086G>C	NP_001274103.1:p.Leu1362=
NM_001351295.2:c.4149G>C	NP_001338224.1:p.Leu1383=
NM_001351296.2:c.4083G>C	NP_001338225.1:p.Leu1361=
NM_001351297.2:c.4080G>C	NP_001338226.1:p.Leu1360=
NR_147094.2:n.4378G>C
NM_001287174.3:c.4086G>C	NP_001274103.1:p.Leu1362=