Canonical Allele Identifier: CA379801488

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428216C>G (hg19) ; chr11:g.17406669C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406669C>G , CM000673.2:g.17406669C>G	GRCh38
NC_000011.9:g.17428216C>G , CM000673.1:g.17428216C>G	GRCh37
NC_000011.8:g.17384792C>G	NCBI36
NG_008867.1:g.75234G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2851G>C
ENST00000529967.6:n.1621G>C
ENST00000532220.2:n.1014G>C
ENST00000642611.2:n.3351G>C
ENST00000645004.2:n.781G>C
ENST00000682051.1:n.3298G>C
ENST00000682110.1:n.3351G>C
ENST00000682140.1:c.3279G>C	ENSP00000507829.1:p.Lys1093Asn
ENST00000682185.1:n.4587G>C
ENST00000682204.1:c.*1420G>C	ENSP00000507094.1:n.*1420G>C
ENST00000682215.1:n.3348G>C
ENST00000682288.1:c.*1713G>C	ENSP00000507506.1:n.*1713G>C
ENST00000682442.1:n.3571G>C
ENST00000682528.1:n.3428G>C
ENST00000682673.1:n.3295G>C
ENST00000682805.1:n.3348G>C
ENST00000682965.1:c.3279G>C	ENSP00000508229.1:p.Lys1093Asn
ENST00000683093.1:n.3450G>C
ENST00000683136.1:c.3279G>C	ENSP00000507768.1:p.Lys1093Asn
ENST00000683153.1:n.3507G>C
ENST00000683365.1:n.3453G>C
ENST00000683377.1:n.3351G>C
ENST00000683456.1:c.*419G>C	ENSP00000508318.1:n.*419G>C
ENST00000683522.1:n.3351G>C
ENST00000683562.1:c.*1451G>C	ENSP00000508265.1:n.*1451G>C
ENST00000683693.1:n.3428G>C
ENST00000683725.1:c.3282G>C	ENSP00000507496.1:p.Lys1094Asn
ENST00000684010.1:n.3346G>C
ENST00000684157.1:n.3351G>C
ENST00000684253.1:n.3254G>C
ENST00000684288.1:c.*1454G>C	ENSP00000507143.1:n.*1454G>C
ENST00000684313.1:n.2783G>C
ENST00000684332.1:n.3424G>C
ENST00000684371.1:n.3457G>C
ENST00000684404.1:n.3394G>C
ENST00000684442.1:n.3351G>C
ENST00000684555.1:c.*1494G>C	ENSP00000507705.1:n.*1494G>C
ENST00000684571.1:c.3123G>C	ENSP00000506935.1:p.Lys1041Asn
ENST00000684593.1:c.*2987G>C	ENSP00000507005.1:n.*2987G>C
ENST00000684711.1:c.*1678G>C	ENSP00000506841.1:n.*1678G>C
ENST00000302539.9:c.3285G>C	ENSP00000303960.4:p.Lys1095Asn
ENST00000389817.8:c.3282G>C MANE Select	ENSP00000374467.4:p.Lys1094Asn
ENST00000642271.1:c.3279G>C	ENSP00000493749.1:p.Lys1093Asn
ENST00000642579.1:c.1366G>C
ENST00000642611.1:n.3236G>C
ENST00000642902.1:c.3064G>C
ENST00000643260.1:c.3282G>C	ENSP00000494450.1:p.Lys1094Asn
ENST00000643562.1:c.*1258G>C	ENSP00000496124.1:n.*1258G>C
ENST00000643925.1:c.1406G>C
ENST00000644447.1:c.1638G>C	ENSP00000496282.1:p.Lys546Asn
ENST00000644484.1:c.*1537G>C	ENSP00000493558.1:n.*1537G>C
ENST00000644542.1:c.*3086G>C	ENSP00000495532.1:n.*3086G>C
ENST00000644675.1:c.*1454G>C	ENSP00000494567.1:n.*1454G>C
ENST00000644757.1:c.*1567G>C	ENSP00000495085.1:n.*1567G>C
ENST00000644772.1:c.3348G>C	ENSP00000494321.1:p.Lys1116Asn
ENST00000645004.1:n.421G>C
ENST00000645076.1:c.2481G>C
ENST00000645417.1:c.448G>C
ENST00000645744.1:c.*1546G>C	ENSP00000494564.1:n.*1546G>C
ENST00000645760.1:c.3557G>C
ENST00000645884.1:c.*419G>C	ENSP00000495516.1:n.*419G>C
ENST00000646003.1:c.*1238G>C	ENSP00000495259.1:n.*1238G>C
ENST00000646207.1:c.*1749G>C	ENSP00000495025.1:n.*1749G>C
ENST00000646276.1:c.*1555G>C	ENSP00000496070.1:n.*1555G>C
ENST00000646592.1:c.2588G>C
ENST00000646902.1:c.3279G>C	ENSP00000494101.1:p.Lys1093Asn
ENST00000646993.1:c.*1678G>C	ENSP00000493720.1:n.*1678G>C
ENST00000647013.1:c.3288G>C	ENSP00000496741.1:n.3288G>C
ENST00000647015.1:c.3033G>C	ENSP00000495389.1:p.Lys1011Asn
ENST00000647086.1:c.*3012G>C	ENSP00000493677.1:n.*3012G>C
ENST00000647158.1:c.*1423G>C	ENSP00000495744.1:n.*1423G>C
ENST00000302539.8:c.3285G>C	ENSP00000303960.4:p.Lys1095Asn
ENST00000389817.7:c.3282G>C	ENSP00000374467.3:p.Lys1094Asn
ENST00000524561.1:n.414G>C
ENST00000527905.5:c.*158G>C	ENSP00000431653.1:n.*158G>C
NM_000352.4:c.3282G>C	NP_000343.2:p.Lys1094Asn
NM_001287174.1:c.3285G>C	NP_001274103.1:p.Lys1095Asn
XM_011520331.1:c.3282G>C	XP_011518633.1:p.Lys1094Asn
XM_011520332.1:c.3285G>C	XP_011518634.1:p.Lys1095Asn
XM_011520333.1:c.1782G>C	XP_011518635.1:p.Lys594Asn
XR_930890.1:n.3348G>C
XR_930891.1:n.3348G>C
XR_930892.1:n.3248G>C
XR_930893.1:n.3245G>C
NM_001351295.1:c.3348G>C	NP_001338224.1:p.Lys1116Asn
NM_001351296.1:c.3282G>C	NP_001338225.1:p.Lys1094Asn
NM_001351297.1:c.3279G>C	NP_001338226.1:p.Lys1093Asn
NR_147094.1:n.3431G>C
XM_017018197.2:c.3351G>C	XP_016873686.1:p.Lys1117Asn
XM_017018199.1:c.3348G>C	XP_016873688.1:p.Lys1116Asn
XM_017018201.2:c.3351G>C	XP_016873690.1:p.Lys1117Asn
XM_017018202.1:c.1848G>C	XP_016873691.1:p.Lys616Asn
XM_017018204.1:c.1239G>C	XP_016873693.1:p.Lys413Asn
XM_024448668.1:c.1650G>C	XP_024304436.1:p.Lys550Asn
XR_001747945.2:n.3423G>C
XR_001747946.2:n.3354G>C
XR_002957189.1:n.3503G>C
NM_000352.6:c.3282G>C MANE Select	NP_000343.2:p.Lys1094Asn
NM_001287174.2:c.3285G>C	NP_001274103.1:p.Lys1095Asn
NM_001351295.2:c.3348G>C	NP_001338224.1:p.Lys1116Asn
NM_001351296.2:c.3282G>C	NP_001338225.1:p.Lys1094Asn
NM_001351297.2:c.3279G>C	NP_001338226.1:p.Lys1093Asn
NR_147094.2:n.3431G>C
NM_001287174.3:c.3285G>C	NP_001274103.1:p.Lys1095Asn