Canonical Allele Identifier: CA218422677

Gene: ABCC8

Linked Data

• dbSNP Id: rs1024071620
• MyVariant Identifiers: chr11:g.17428332A>G (hg19) ; chr11:g.17406785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406785A>G , CM000673.2:g.17406785A>G	GRCh38
NC_000011.9:g.17428332A>G , CM000673.1:g.17428332A>G	GRCh37
NC_000011.8:g.17384908A>G	NCBI36
NG_008867.1:g.75118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2735T>C
ENST00000529967.6:n.1505T>C
ENST00000532220.2:n.898T>C
ENST00000642611.2:n.3235T>C
ENST00000645004.2:n.665T>C
ENST00000682051.1:n.3182T>C
ENST00000682110.1:n.3235T>C
ENST00000682140.1:c.3163T>C	ENSP00000507829.1:p.Cys1055Arg
ENST00000682185.1:n.4471T>C
ENST00000682204.1:c.*1304T>C	ENSP00000507094.1:n.*1304T>C
ENST00000682215.1:n.3232T>C
ENST00000682288.1:c.*1597T>C	ENSP00000507506.1:n.*1597T>C
ENST00000682442.1:n.3455T>C
ENST00000682528.1:n.3312T>C
ENST00000682673.1:n.3179T>C
ENST00000682805.1:n.3232T>C
ENST00000682965.1:c.3163T>C	ENSP00000508229.1:p.Cys1055Arg
ENST00000683093.1:n.3334T>C
ENST00000683136.1:c.3163T>C	ENSP00000507768.1:p.Cys1055Arg
ENST00000683153.1:n.3391T>C
ENST00000683365.1:n.3337T>C
ENST00000683377.1:n.3235T>C
ENST00000683456.1:c.*303T>C	ENSP00000508318.1:n.*303T>C
ENST00000683522.1:n.3235T>C
ENST00000683562.1:c.*1335T>C	ENSP00000508265.1:n.*1335T>C
ENST00000683693.1:n.3312T>C
ENST00000683725.1:c.3166T>C	ENSP00000507496.1:p.Cys1056Arg
ENST00000684010.1:n.3230T>C
ENST00000684157.1:n.3235T>C
ENST00000684253.1:n.3138T>C
ENST00000684288.1:c.*1338T>C	ENSP00000507143.1:n.*1338T>C
ENST00000684313.1:n.2667T>C
ENST00000684332.1:n.3308T>C
ENST00000684371.1:n.3341T>C
ENST00000684404.1:n.3278T>C
ENST00000684442.1:n.3235T>C
ENST00000684555.1:c.*1378T>C	ENSP00000507705.1:n.*1378T>C
ENST00000684571.1:c.3007T>C	ENSP00000506935.1:p.Cys1003Arg
ENST00000684593.1:c.*2871T>C	ENSP00000507005.1:n.*2871T>C
ENST00000684711.1:c.*1562T>C	ENSP00000506841.1:n.*1562T>C
ENST00000302539.9:c.3169T>C	ENSP00000303960.4:p.Cys1057Arg
ENST00000389817.8:c.3166T>C MANE Select	ENSP00000374467.4:p.Cys1056Arg
ENST00000642271.1:c.3163T>C	ENSP00000493749.1:p.Cys1055Arg
ENST00000642579.1:c.1250T>C
ENST00000642611.1:n.3120T>C
ENST00000642902.1:c.2948T>C
ENST00000643260.1:c.3166T>C	ENSP00000494450.1:p.Cys1056Arg
ENST00000643562.1:c.*1142T>C	ENSP00000496124.1:n.*1142T>C
ENST00000643925.1:c.1290T>C
ENST00000644447.1:c.1522T>C	ENSP00000496282.1:p.Cys508Arg
ENST00000644484.1:c.*1421T>C	ENSP00000493558.1:n.*1421T>C
ENST00000644542.1:c.*2970T>C	ENSP00000495532.1:n.*2970T>C
ENST00000644675.1:c.*1338T>C	ENSP00000494567.1:n.*1338T>C
ENST00000644757.1:c.*1451T>C	ENSP00000495085.1:n.*1451T>C
ENST00000644772.1:c.3232T>C	ENSP00000494321.1:p.Cys1078Arg
ENST00000645004.1:n.305T>C
ENST00000645076.1:c.2365T>C
ENST00000645417.1:c.332T>C
ENST00000645744.1:c.*1430T>C	ENSP00000494564.1:n.*1430T>C
ENST00000645760.1:c.3441T>C
ENST00000645884.1:c.*303T>C	ENSP00000495516.1:n.*303T>C
ENST00000646003.1:c.*1122T>C	ENSP00000495259.1:n.*1122T>C
ENST00000646207.1:c.*1633T>C	ENSP00000495025.1:n.*1633T>C
ENST00000646276.1:c.*1439T>C	ENSP00000496070.1:n.*1439T>C
ENST00000646592.1:c.2472T>C
ENST00000646902.1:c.3163T>C	ENSP00000494101.1:p.Cys1055Arg
ENST00000646993.1:c.*1562T>C	ENSP00000493720.1:n.*1562T>C
ENST00000647013.1:c.3172T>C	ENSP00000496741.1:n.3172T>C
ENST00000647015.1:c.2917T>C	ENSP00000495389.1:p.Cys973Arg
ENST00000647086.1:c.*2896T>C	ENSP00000493677.1:n.*2896T>C
ENST00000647158.1:c.*1307T>C	ENSP00000495744.1:n.*1307T>C
ENST00000302539.8:c.3169T>C	ENSP00000303960.4:p.Cys1057Arg
ENST00000389817.7:c.3166T>C	ENSP00000374467.3:p.Cys1056Arg
ENST00000524561.1:n.298T>C
ENST00000526921.5:n.850T>C
ENST00000527905.5:c.*42T>C	ENSP00000431653.1:n.*42T>C
NM_000352.4:c.3166T>C	NP_000343.2:p.Cys1056Arg
NM_001287174.1:c.3169T>C	NP_001274103.1:p.Cys1057Arg
XM_011520331.1:c.3166T>C	XP_011518633.1:p.Cys1056Arg
XM_011520332.1:c.3169T>C	XP_011518634.1:p.Cys1057Arg
XM_011520333.1:c.1666T>C	XP_011518635.1:p.Cys556Arg
XR_930890.1:n.3232T>C
XR_930891.1:n.3232T>C
XR_930892.1:n.3132T>C
XR_930893.1:n.3129T>C
NM_001351295.1:c.3232T>C	NP_001338224.1:p.Cys1078Arg
NM_001351296.1:c.3166T>C	NP_001338225.1:p.Cys1056Arg
NM_001351297.1:c.3163T>C	NP_001338226.1:p.Cys1055Arg
NR_147094.1:n.3315T>C
XM_017018197.2:c.3235T>C	XP_016873686.1:p.Cys1079Arg
XM_017018199.1:c.3232T>C	XP_016873688.1:p.Cys1078Arg
XM_017018201.2:c.3235T>C	XP_016873690.1:p.Cys1079Arg
XM_017018202.1:c.1732T>C	XP_016873691.1:p.Cys578Arg
XM_017018204.1:c.1123T>C	XP_016873693.1:p.Cys375Arg
XM_024448668.1:c.1534T>C	XP_024304436.1:p.Cys512Arg
XR_001747945.2:n.3307T>C
XR_001747946.2:n.3238T>C
XR_002957189.1:n.3387T>C
NM_000352.6:c.3166T>C MANE Select	NP_000343.2:p.Cys1056Arg
NM_001287174.2:c.3169T>C	NP_001274103.1:p.Cys1057Arg
NM_001351295.2:c.3232T>C	NP_001338224.1:p.Cys1078Arg
NM_001351296.2:c.3166T>C	NP_001338225.1:p.Cys1056Arg
NM_001351297.2:c.3163T>C	NP_001338226.1:p.Cys1055Arg
NR_147094.2:n.3315T>C
NM_001287174.3:c.3169T>C	NP_001274103.1:p.Cys1057Arg