Canonical Allele Identifier: CA473516146

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428474C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406927C>G , CM000673.2:g.17406927C>G	GRCh38
NC_000011.9:g.17428474C>G , CM000673.1:g.17428474C>G	GRCh37
NC_000011.8:g.17385050C>G	NCBI36
NG_008867.1:g.74976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2692G>C
ENST00000529967.6:n.1462G>C
ENST00000532220.2:n.855G>C
ENST00000642611.2:n.3192G>C
ENST00000645004.2:n.622G>C
ENST00000682051.1:n.3139G>C
ENST00000682110.1:n.3192G>C
ENST00000682140.1:c.3120G>C	ENSP00000507829.1:p.Leu1040=
ENST00000682185.1:n.4428G>C
ENST00000682204.1:c.*1261G>C	ENSP00000507094.1:n.*1261G>C
ENST00000682215.1:n.3189G>C
ENST00000682288.1:c.*1554G>C	ENSP00000507506.1:n.*1554G>C
ENST00000682442.1:n.3313G>C
ENST00000682528.1:n.3269G>C
ENST00000682673.1:n.3136G>C
ENST00000682805.1:n.3189G>C
ENST00000682965.1:c.3120G>C	ENSP00000508229.1:p.Leu1040=
ENST00000683093.1:n.3291G>C
ENST00000683136.1:c.3120G>C	ENSP00000507768.1:p.Leu1040=
ENST00000683153.1:n.3348G>C
ENST00000683365.1:n.3294G>C
ENST00000683377.1:n.3192G>C
ENST00000683456.1:c.*260G>C	ENSP00000508318.1:n.*260G>C
ENST00000683522.1:n.3192G>C
ENST00000683562.1:c.*1292G>C	ENSP00000508265.1:n.*1292G>C
ENST00000683693.1:n.3269G>C
ENST00000683725.1:c.3123G>C	ENSP00000507496.1:p.Leu1041=
ENST00000684010.1:n.3187G>C
ENST00000684157.1:n.3192G>C
ENST00000684253.1:n.3095G>C
ENST00000684288.1:c.*1295G>C	ENSP00000507143.1:n.*1295G>C
ENST00000684313.1:n.2624G>C
ENST00000684332.1:n.3265G>C
ENST00000684371.1:n.3298G>C
ENST00000684404.1:n.3235G>C
ENST00000684442.1:n.3192G>C
ENST00000684555.1:c.*1335G>C	ENSP00000507705.1:n.*1335G>C
ENST00000684571.1:c.2964G>C	ENSP00000506935.1:p.Leu988=
ENST00000684593.1:c.*2828G>C	ENSP00000507005.1:n.*2828G>C
ENST00000684711.1:c.*1519G>C	ENSP00000506841.1:n.*1519G>C
ENST00000302539.9:c.3126G>C	ENSP00000303960.4:p.Leu1042=
ENST00000389817.8:c.3123G>C MANE Select	ENSP00000374467.4:p.Leu1041=
ENST00000642271.1:c.3120G>C	ENSP00000493749.1:p.Leu1040=
ENST00000642579.1:c.1207G>C
ENST00000642611.1:n.3077G>C
ENST00000642902.1:c.2905G>C
ENST00000643260.1:c.3123G>C	ENSP00000494450.1:p.Leu1041=
ENST00000643562.1:c.*1099G>C	ENSP00000496124.1:n.*1099G>C
ENST00000643925.1:c.1247G>C
ENST00000644447.1:c.1479G>C	ENSP00000496282.1:p.Leu493=
ENST00000644484.1:c.*1378G>C	ENSP00000493558.1:n.*1378G>C
ENST00000644542.1:c.*2828G>C	ENSP00000495532.1:n.*2828G>C
ENST00000644675.1:c.*1295G>C	ENSP00000494567.1:n.*1295G>C
ENST00000644757.1:c.*1408G>C	ENSP00000495085.1:n.*1408G>C
ENST00000644772.1:c.3189G>C	ENSP00000494321.1:p.Leu1063=
ENST00000645004.1:n.262G>C
ENST00000645076.1:c.2322G>C
ENST00000645417.1:c.289G>C
ENST00000645744.1:c.*1387G>C	ENSP00000494564.1:n.*1387G>C
ENST00000645760.1:c.3398G>C
ENST00000645884.1:c.*260G>C	ENSP00000495516.1:n.*260G>C
ENST00000646003.1:c.*1079G>C	ENSP00000495259.1:n.*1079G>C
ENST00000646207.1:c.*1590G>C	ENSP00000495025.1:n.*1590G>C
ENST00000646276.1:c.*1396G>C	ENSP00000496070.1:n.*1396G>C
ENST00000646592.1:c.2429G>C
ENST00000646902.1:c.3120G>C	ENSP00000494101.1:p.Leu1040=
ENST00000646993.1:c.*1519G>C	ENSP00000493720.1:n.*1519G>C
ENST00000647013.1:c.3129G>C	ENSP00000496741.1:n.3129G>C
ENST00000647015.1:c.2874G>C	ENSP00000495389.1:p.Leu958=
ENST00000647086.1:c.*2853G>C	ENSP00000493677.1:n.*2853G>C
ENST00000647158.1:c.*1264G>C	ENSP00000495744.1:n.*1264G>C
ENST00000302539.8:c.3126G>C	ENSP00000303960.4:p.Leu1042=
ENST00000389817.7:c.3123G>C	ENSP00000374467.3:p.Leu1041=
ENST00000524561.1:n.255G>C
ENST00000526921.5:n.807G>C
ENST00000527905.5:c.2993G>C	ENSP00000431653.1:p.Ter998Ser
ENST00000529967.5:n.792G>C
NM_000352.4:c.3123G>C	NP_000343.2:p.Leu1041=
NM_001287174.1:c.3126G>C	NP_001274103.1:p.Leu1042=
XM_011520331.1:c.3123G>C	XP_011518633.1:p.Leu1041=
XM_011520332.1:c.3126G>C	XP_011518634.1:p.Leu1042=
XM_011520333.1:c.1623G>C	XP_011518635.1:p.Leu541=
XR_930890.1:n.3189G>C
XR_930891.1:n.3189G>C
XR_930892.1:n.3089G>C
XR_930893.1:n.3086G>C
NM_001351295.1:c.3189G>C	NP_001338224.1:p.Leu1063=
NM_001351296.1:c.3123G>C	NP_001338225.1:p.Leu1041=
NM_001351297.1:c.3120G>C	NP_001338226.1:p.Leu1040=
NR_147094.1:n.3272G>C
XM_017018197.2:c.3192G>C	XP_016873686.1:p.Leu1064=
XM_017018199.1:c.3189G>C	XP_016873688.1:p.Leu1063=
XM_017018201.2:c.3192G>C	XP_016873690.1:p.Leu1064=
XM_017018202.1:c.1689G>C	XP_016873691.1:p.Leu563=
XM_017018204.1:c.1080G>C	XP_016873693.1:p.Leu360=
XM_024448668.1:c.1491G>C	XP_024304436.1:p.Leu497=
XR_001747945.2:n.3264G>C
XR_001747946.2:n.3195G>C
XR_002957189.1:n.3344G>C
NM_000352.6:c.3123G>C MANE Select	NP_000343.2:p.Leu1041=
NM_001287174.2:c.3126G>C	NP_001274103.1:p.Leu1042=
NM_001351295.2:c.3189G>C	NP_001338224.1:p.Leu1063=
NM_001351296.2:c.3123G>C	NP_001338225.1:p.Leu1041=
NM_001351297.2:c.3120G>C	NP_001338226.1:p.Leu1040=
NR_147094.2:n.3272G>C
NM_001287174.3:c.3126G>C	NP_001274103.1:p.Leu1042=