Canonical Allele Identifier: CA5902619

Gene: ABCC8

Linked Data

• dbSNP Id: rs748002386
• ExAC: 11:17418699 C / T
• MyVariant Identifiers: chr11:g.17418699C>T (hg19) ; chr11:g.17397152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397152C>T , CM000673.2:g.17397152C>T	GRCh38
NC_000011.9:g.17418699C>T , CM000673.1:g.17418699C>T	GRCh37
NC_000011.8:g.17375275C>T	NCBI36
NG_008867.1:g.84751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3484G>A
ENST00000528374.2:c.567+41G>A
ENST00000529967.6:n.2327+41G>A
ENST00000532220.2:n.2131G>A
ENST00000642611.2:n.4098G>A
ENST00000644057.2:n.431+41G>A
ENST00000645004.2:n.1487+41G>A
ENST00000682051.1:n.4045G>A
ENST00000682110.1:n.4098G>A
ENST00000682140.1:c.3985+41G>A	ENSP00000507829.1:n.3985+41G>A
ENST00000682185.1:n.5293+41G>A
ENST00000682204.1:c.*2126+41G>A	ENSP00000507094.1:n.*2126+41G>A
ENST00000682215.1:n.4465G>A
ENST00000682288.1:c.*2419+41G>A	ENSP00000507506.1:n.*2419+41G>A
ENST00000682442.1:n.4318G>A
ENST00000682528.1:n.4175G>A
ENST00000682673.1:n.4042G>A
ENST00000682805.1:n.4465G>A
ENST00000682965.1:c.*410+41G>A	ENSP00000508229.1:n.*410+41G>A
ENST00000683093.1:n.4197G>A
ENST00000683136.1:c.3871+41G>A	ENSP00000507768.1:n.3871+41G>A
ENST00000683153.1:n.4140G>A
ENST00000683365.1:n.4200G>A
ENST00000683377.1:n.4098G>A
ENST00000683456.1:c.*1125+41G>A	ENSP00000508318.1:n.*1125+41G>A
ENST00000683522.1:n.4098G>A
ENST00000683562.1:c.*2157+41G>A	ENSP00000508265.1:n.*2157+41G>A
ENST00000683693.1:n.4545G>A
ENST00000683725.1:c.3988+41G>A	ENSP00000507496.1:n.3988+41G>A
ENST00000684010.1:n.4093G>A
ENST00000684157.1:n.4098G>A
ENST00000684253.1:n.4001G>A
ENST00000684288.1:c.*2160+41G>A	ENSP00000507143.1:n.*2160+41G>A
ENST00000684313.1:n.3530G>A
ENST00000684332.1:n.4171G>A
ENST00000684371.1:n.4204G>A
ENST00000684404.1:n.4141G>A
ENST00000684442.1:n.4427+41G>A
ENST00000684555.1:c.*2200+41G>A	ENSP00000507705.1:n.*2200+41G>A
ENST00000684571.1:c.3829+41G>A	ENSP00000506935.1:n.3829+41G>A
ENST00000684593.1:c.*3693+41G>A	ENSP00000507005.1:n.*3693+41G>A
ENST00000684711.1:c.*2384+41G>A	ENSP00000506841.1:n.*2384+41G>A
ENST00000302539.9:c.3991+41G>A	ENSP00000303960.4:n.3991+41G>A
ENST00000389817.8:c.3988+41G>A MANE Select	ENSP00000374467.4:n.3988+41G>A
ENST00000642271.1:c.3985+41G>A	ENSP00000493749.1:n.3985+41G>A
ENST00000642579.1:c.2072+41G>A
ENST00000642611.1:n.3983G>A
ENST00000642902.1:c.3770+41G>A
ENST00000643260.1:c.3988+41G>A	ENSP00000494450.1:n.3988+41G>A
ENST00000643562.1:c.*2005G>A	ENSP00000496124.1:n.*2005G>A
ENST00000643925.1:c.2523G>A
ENST00000644484.1:c.*2284G>A	ENSP00000493558.1:n.*2284G>A
ENST00000644675.1:c.*2160+41G>A	ENSP00000494567.1:n.*2160+41G>A
ENST00000644757.1:c.*2314G>A	ENSP00000495085.1:n.*2314G>A
ENST00000644772.1:c.4054+41G>A	ENSP00000494321.1:n.4054+41G>A
ENST00000645004.1:n.1538G>A
ENST00000645076.1:c.3187+41G>A
ENST00000645417.1:c.1176+41G>A
ENST00000645744.1:c.*2663G>A	ENSP00000494564.1:n.*2663G>A
ENST00000645760.1:c.4304G>A
ENST00000645884.1:c.*1166G>A	ENSP00000495516.1:n.*1166G>A
ENST00000646003.1:c.*1985G>A	ENSP00000495259.1:n.*1985G>A
ENST00000646207.1:c.*2825+41G>A	ENSP00000495025.1:n.*2825+41G>A
ENST00000646276.1:c.*2302G>A	ENSP00000496070.1:n.*2302G>A
ENST00000646592.1:c.3294+41G>A
ENST00000646902.1:c.3985+41G>A	ENSP00000494101.1:n.3985+41G>A
ENST00000646993.1:c.*2425G>A	ENSP00000493720.1:n.*2425G>A
ENST00000647013.1:c.3994+41G>A	ENSP00000496741.1:n.3994+41G>A
ENST00000647015.1:c.3739+41G>A	ENSP00000495389.1:n.3739+41G>A
ENST00000647086.1:c.*3604+41G>A	ENSP00000493677.1:n.*3604+41G>A
ENST00000647158.1:c.*2170G>A	ENSP00000495744.1:n.*2170G>A
ENST00000302539.8:c.3991+41G>A	ENSP00000303960.4:n.3991+41G>A
ENST00000389817.7:c.3988+41G>A	ENSP00000374467.3:n.3988+41G>A
ENST00000527905.5:c.*905G>A	ENSP00000431653.1:n.*905G>A
ENST00000528374.1:c.458+41G>A
ENST00000531137.1:n.448G>A
ENST00000531891.1:c.356+41G>A
ENST00000532220.1:n.357G>A
NM_000352.4:c.3988+41G>A	NP_000343.2:n.3988+41G>A
NM_001287174.1:c.3991+41G>A	NP_001274103.1:n.3991+41G>A
XM_011520331.1:c.3988+41G>A	XP_011518633.1:n.3988+41G>A
XM_011520332.1:c.3991+41G>A	XP_011518634.1:n.3991+41G>A
XM_011520333.1:c.2488+41G>A	XP_011518635.1:n.2488+41G>A
XR_930890.1:n.4054+41G>A
NM_001351295.1:c.4054+41G>A	NP_001338224.1:n.4054+41G>A
NM_001351296.1:c.3988+41G>A	NP_001338225.1:n.3988+41G>A
NM_001351297.1:c.3985+41G>A	NP_001338226.1:n.3985+41G>A
NR_147094.1:n.4178G>A
XM_017018197.2:c.4057+41G>A	XP_016873686.1:n.4057+41G>A
XM_017018199.1:c.4054+41G>A	XP_016873688.1:n.4054+41G>A
XM_017018201.2:c.4057+41G>A	XP_016873690.1:n.4057+41G>A
XM_017018202.1:c.2554+41G>A	XP_016873691.1:n.2554+41G>A
XM_017018204.1:c.1945+41G>A	XP_016873693.1:n.1945+41G>A
XM_024448668.1:c.2356+41G>A	XP_024304436.1:n.2356+41G>A
XR_001747945.2:n.4129+41G>A
XR_001747946.2:n.4060+41G>A
XR_002957189.1:n.4620G>A
NM_000352.6:c.3988+41G>A MANE Select	NP_000343.2:n.3988+41G>A
NM_001287174.2:c.3991+41G>A	NP_001274103.1:n.3991+41G>A
NM_001351295.2:c.4054+41G>A	NP_001338224.1:n.4054+41G>A
NM_001351296.2:c.3988+41G>A	NP_001338225.1:n.3988+41G>A
NM_001351297.2:c.3985+41G>A	NP_001338226.1:n.3985+41G>A
NR_147094.2:n.4178G>A
NM_001287174.3:c.3991+41G>A	NP_001274103.1:n.3991+41G>A