Canonical Allele Identifier: CA5902627

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397191A>G , CM000673.2:g.17397191A>G	GRCh38
NC_000011.9:g.17418738A>G , CM000673.1:g.17418738A>G	GRCh37
NC_000011.8:g.17375314A>G	NCBI36
NG_008867.1:g.84712T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3988+2T>C MANE Select	NP_000343.2:n.3988+2T>C
ENST00000389817.8:c.3988+2T>C MANE Select	ENSP00000374467.4:n.3988+2T>C
NM_000352.4:c.3988+2T>C	NP_000343.2:n.3988+2T>C
NM_001287174.1:c.3991+2T>C	NP_001274103.1:n.3991+2T>C
NM_001287174.2:c.3991+2T>C	NP_001274103.1:n.3991+2T>C
NM_001287174.3:c.3991+2T>C	NP_001274103.1:n.3991+2T>C
NM_001351295.1:c.4054+2T>C	NP_001338224.1:n.4054+2T>C
NM_001351295.2:c.4054+2T>C	NP_001338224.1:n.4054+2T>C
NM_001351296.1:c.3988+2T>C	NP_001338225.1:n.3988+2T>C
NM_001351296.2:c.3988+2T>C	NP_001338225.1:n.3988+2T>C
NM_001351297.1:c.3985+2T>C	NP_001338226.1:n.3985+2T>C
NM_001351297.2:c.3985+2T>C	NP_001338226.1:n.3985+2T>C
NR_147094.1:n.4139T>C
NR_147094.2:n.4139T>C
ENST00000302539.8:c.3991+2T>C	ENSP00000303960.4:n.3991+2T>C
ENST00000302539.9:c.3991+2T>C	ENSP00000303960.4:n.3991+2T>C
ENST00000389817.7:c.3988+2T>C	ENSP00000374467.3:n.3988+2T>C
ENST00000524561.2:n.3445T>C
ENST00000527905.5:c.*866T>C	ENSP00000431653.1:n.*866T>C
ENST00000528374.1:c.458+2T>C
ENST00000528374.2:c.567+2T>C
ENST00000529967.6:n.2327+2T>C
ENST00000531137.1:n.409T>C
ENST00000531891.1:c.356+2T>C
ENST00000532220.1:n.318T>C
ENST00000532220.2:n.2092T>C
ENST00000642271.1:c.3985+2T>C	ENSP00000493749.1:n.3985+2T>C
ENST00000642579.1:c.2072+2T>C
ENST00000642611.1:n.3944T>C
ENST00000642611.2:n.4059T>C
ENST00000642902.1:c.3770+2T>C
ENST00000643260.1:c.3988+2T>C	ENSP00000494450.1:n.3988+2T>C
ENST00000643562.1:c.*1966T>C	ENSP00000496124.1:n.*1966T>C
ENST00000643925.1:c.2484T>C
ENST00000644057.2:n.431+2T>C
ENST00000644447.1:c.2441T>C	ENSP00000496282.1:n.2441T>C
ENST00000644484.1:c.*2245T>C	ENSP00000493558.1:n.*2245T>C
ENST00000644675.1:c.*2160+2T>C	ENSP00000494567.1:n.*2160+2T>C
ENST00000644757.1:c.*2275T>C	ENSP00000495085.1:n.*2275T>C
ENST00000644772.1:c.4054+2T>C	ENSP00000494321.1:n.4054+2T>C
ENST00000645004.1:n.1499T>C
ENST00000645004.2:n.1487+2T>C
ENST00000645076.1:c.3187+2T>C
ENST00000645417.1:c.1176+2T>C
ENST00000645744.1:c.*2624T>C	ENSP00000494564.1:n.*2624T>C
ENST00000645760.1:c.4265T>C
ENST00000645884.1:c.*1127T>C	ENSP00000495516.1:n.*1127T>C
ENST00000646003.1:c.*1946T>C	ENSP00000495259.1:n.*1946T>C
ENST00000646207.1:c.*2825+2T>C	ENSP00000495025.1:n.*2825+2T>C
ENST00000646276.1:c.*2263T>C	ENSP00000496070.1:n.*2263T>C
ENST00000646592.1:c.3294+2T>C
ENST00000646902.1:c.3985+2T>C	ENSP00000494101.1:n.3985+2T>C
ENST00000646993.1:c.*2386T>C	ENSP00000493720.1:n.*2386T>C
ENST00000647013.1:c.3994+2T>C	ENSP00000496741.1:n.3994+2T>C
ENST00000647015.1:c.3739+2T>C	ENSP00000495389.1:n.3739+2T>C
ENST00000647086.1:c.*3604+2T>C	ENSP00000493677.1:n.*3604+2T>C
ENST00000647158.1:c.*2131T>C	ENSP00000495744.1:n.*2131T>C
ENST00000682051.1:n.4006T>C
ENST00000682110.1:n.4059T>C
ENST00000682140.1:c.3985+2T>C	ENSP00000507829.1:n.3985+2T>C
ENST00000682185.1:n.5293+2T>C
ENST00000682204.1:c.*2126+2T>C	ENSP00000507094.1:n.*2126+2T>C
ENST00000682215.1:n.4426T>C
ENST00000682288.1:c.*2419+2T>C	ENSP00000507506.1:n.*2419+2T>C
ENST00000682442.1:n.4279T>C
ENST00000682528.1:n.4136T>C
ENST00000682673.1:n.4003T>C
ENST00000682805.1:n.4426T>C
ENST00000682965.1:c.*410+2T>C	ENSP00000508229.1:n.*410+2T>C
ENST00000683093.1:n.4158T>C
ENST00000683136.1:c.3871+2T>C	ENSP00000507768.1:n.3871+2T>C
ENST00000683153.1:n.4101T>C
ENST00000683365.1:n.4161T>C
ENST00000683377.1:n.4059T>C
ENST00000683456.1:c.*1125+2T>C	ENSP00000508318.1:n.*1125+2T>C
ENST00000683522.1:n.4059T>C
ENST00000683562.1:c.*2157+2T>C	ENSP00000508265.1:n.*2157+2T>C
ENST00000683693.1:n.4506T>C
ENST00000683725.1:c.3988+2T>C	ENSP00000507496.1:n.3988+2T>C
ENST00000684010.1:n.4054T>C
ENST00000684157.1:n.4059T>C
ENST00000684253.1:n.3962T>C
ENST00000684288.1:c.*2160+2T>C	ENSP00000507143.1:n.*2160+2T>C
ENST00000684313.1:n.3491T>C
ENST00000684332.1:n.4132T>C
ENST00000684371.1:n.4165T>C
ENST00000684404.1:n.4102T>C
ENST00000684442.1:n.4427+2T>C
ENST00000684555.1:c.*2200+2T>C	ENSP00000507705.1:n.*2200+2T>C
ENST00000684571.1:c.3829+2T>C	ENSP00000506935.1:n.3829+2T>C
ENST00000684593.1:c.*3693+2T>C	ENSP00000507005.1:n.*3693+2T>C
ENST00000684711.1:c.*2384+2T>C	ENSP00000506841.1:n.*2384+2T>C
XM_011520331.1:c.3988+2T>C	XP_011518633.1:n.3988+2T>C
XM_011520332.1:c.3991+2T>C	XP_011518634.1:n.3991+2T>C
XM_011520333.1:c.2488+2T>C	XP_011518635.1:n.2488+2T>C
XM_017018197.2:c.4057+2T>C	XP_016873686.1:n.4057+2T>C
XM_017018199.1:c.4054+2T>C	XP_016873688.1:n.4054+2T>C
XM_017018201.2:c.4057+2T>C	XP_016873690.1:n.4057+2T>C
XM_017018202.1:c.2554+2T>C	XP_016873691.1:n.2554+2T>C
XM_017018204.1:c.1945+2T>C	XP_016873693.1:n.1945+2T>C
XM_024448668.1:c.2356+2T>C	XP_024304436.1:n.2356+2T>C
XR_001747945.2:n.4129+2T>C
XR_001747946.2:n.4060+2T>C
XR_002957189.1:n.4581T>C
XR_930890.1:n.4054+2T>C