Canonical Allele Identifier: CA218409856

Gene: ABCC8

Linked Data

• dbSNP Id: rs540076680
• gnomAD v4: 11-17397147-C-T
• MyVariant Identifiers: chr11:g.17418694C>T (hg19) ; chr11:g.17397147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397147C>T , CM000673.2:g.17397147C>T	GRCh38
NC_000011.9:g.17418694C>T , CM000673.1:g.17418694C>T	GRCh37
NC_000011.8:g.17375270C>T	NCBI36
NG_008867.1:g.84756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3489G>A
ENST00000528374.2:c.567+46G>A
ENST00000529967.6:n.2327+46G>A
ENST00000532220.2:n.2136G>A
ENST00000642611.2:n.4103G>A
ENST00000644057.2:n.431+46G>A
ENST00000645004.2:n.1487+46G>A
ENST00000682051.1:n.4050G>A
ENST00000682110.1:n.4103G>A
ENST00000682140.1:c.3985+46G>A	ENSP00000507829.1:n.3985+46G>A
ENST00000682185.1:n.5293+46G>A
ENST00000682204.1:c.*2126+46G>A	ENSP00000507094.1:n.*2126+46G>A
ENST00000682215.1:n.4470G>A
ENST00000682288.1:c.*2419+46G>A	ENSP00000507506.1:n.*2419+46G>A
ENST00000682442.1:n.4323G>A
ENST00000682528.1:n.4180G>A
ENST00000682673.1:n.4047G>A
ENST00000682805.1:n.4470G>A
ENST00000682965.1:c.*410+46G>A	ENSP00000508229.1:n.*410+46G>A
ENST00000683093.1:n.4202G>A
ENST00000683136.1:c.3871+46G>A	ENSP00000507768.1:n.3871+46G>A
ENST00000683153.1:n.4145G>A
ENST00000683365.1:n.4205G>A
ENST00000683377.1:n.4103G>A
ENST00000683456.1:c.*1125+46G>A	ENSP00000508318.1:n.*1125+46G>A
ENST00000683522.1:n.4103G>A
ENST00000683562.1:c.*2157+46G>A	ENSP00000508265.1:n.*2157+46G>A
ENST00000683693.1:n.4550G>A
ENST00000683725.1:c.3988+46G>A	ENSP00000507496.1:n.3988+46G>A
ENST00000684010.1:n.4098G>A
ENST00000684157.1:n.4103G>A
ENST00000684253.1:n.4006G>A
ENST00000684288.1:c.*2160+46G>A	ENSP00000507143.1:n.*2160+46G>A
ENST00000684313.1:n.3535G>A
ENST00000684332.1:n.4176G>A
ENST00000684371.1:n.4209G>A
ENST00000684404.1:n.4146G>A
ENST00000684442.1:n.4427+46G>A
ENST00000684555.1:c.*2200+46G>A	ENSP00000507705.1:n.*2200+46G>A
ENST00000684571.1:c.3829+46G>A	ENSP00000506935.1:n.3829+46G>A
ENST00000684593.1:c.*3693+46G>A	ENSP00000507005.1:n.*3693+46G>A
ENST00000684711.1:c.*2384+46G>A	ENSP00000506841.1:n.*2384+46G>A
ENST00000302539.9:c.3991+46G>A	ENSP00000303960.4:n.3991+46G>A
ENST00000389817.8:c.3988+46G>A MANE Select	ENSP00000374467.4:n.3988+46G>A
ENST00000642271.1:c.3985+46G>A	ENSP00000493749.1:n.3985+46G>A
ENST00000642579.1:c.2072+46G>A
ENST00000642611.1:n.3988G>A
ENST00000642902.1:c.3770+46G>A
ENST00000643260.1:c.3988+46G>A	ENSP00000494450.1:n.3988+46G>A
ENST00000643562.1:c.*2010G>A	ENSP00000496124.1:n.*2010G>A
ENST00000643925.1:c.2528G>A
ENST00000644484.1:c.*2289G>A	ENSP00000493558.1:n.*2289G>A
ENST00000644675.1:c.*2160+46G>A	ENSP00000494567.1:n.*2160+46G>A
ENST00000644757.1:c.*2319G>A	ENSP00000495085.1:n.*2319G>A
ENST00000644772.1:c.4054+46G>A	ENSP00000494321.1:n.4054+46G>A
ENST00000645004.1:n.1543G>A
ENST00000645076.1:c.3187+46G>A
ENST00000645417.1:c.1176+46G>A
ENST00000645744.1:c.*2668G>A	ENSP00000494564.1:n.*2668G>A
ENST00000645760.1:c.4309G>A
ENST00000645884.1:c.*1171G>A	ENSP00000495516.1:n.*1171G>A
ENST00000646003.1:c.*1990G>A	ENSP00000495259.1:n.*1990G>A
ENST00000646207.1:c.*2825+46G>A	ENSP00000495025.1:n.*2825+46G>A
ENST00000646276.1:c.*2307G>A	ENSP00000496070.1:n.*2307G>A
ENST00000646592.1:c.3294+46G>A
ENST00000646902.1:c.3985+46G>A	ENSP00000494101.1:n.3985+46G>A
ENST00000646993.1:c.*2430G>A	ENSP00000493720.1:n.*2430G>A
ENST00000647013.1:c.3994+46G>A	ENSP00000496741.1:n.3994+46G>A
ENST00000647015.1:c.3739+46G>A	ENSP00000495389.1:n.3739+46G>A
ENST00000647086.1:c.*3604+46G>A	ENSP00000493677.1:n.*3604+46G>A
ENST00000647158.1:c.*2175G>A	ENSP00000495744.1:n.*2175G>A
ENST00000302539.8:c.3991+46G>A	ENSP00000303960.4:n.3991+46G>A
ENST00000389817.7:c.3988+46G>A	ENSP00000374467.3:n.3988+46G>A
ENST00000527905.5:c.*910G>A	ENSP00000431653.1:n.*910G>A
ENST00000528374.1:c.458+46G>A
ENST00000531137.1:n.453G>A
ENST00000531891.1:c.356+46G>A
ENST00000532220.1:n.362G>A
NM_000352.4:c.3988+46G>A	NP_000343.2:n.3988+46G>A
NM_001287174.1:c.3991+46G>A	NP_001274103.1:n.3991+46G>A
XM_011520331.1:c.3988+46G>A	XP_011518633.1:n.3988+46G>A
XM_011520332.1:c.3991+46G>A	XP_011518634.1:n.3991+46G>A
XM_011520333.1:c.2488+46G>A	XP_011518635.1:n.2488+46G>A
XR_930890.1:n.4054+46G>A
NM_001351295.1:c.4054+46G>A	NP_001338224.1:n.4054+46G>A
NM_001351296.1:c.3988+46G>A	NP_001338225.1:n.3988+46G>A
NM_001351297.1:c.3985+46G>A	NP_001338226.1:n.3985+46G>A
NR_147094.1:n.4183G>A
XM_017018197.2:c.4057+46G>A	XP_016873686.1:n.4057+46G>A
XM_017018199.1:c.4054+46G>A	XP_016873688.1:n.4054+46G>A
XM_017018201.2:c.4057+46G>A	XP_016873690.1:n.4057+46G>A
XM_017018202.1:c.2554+46G>A	XP_016873691.1:n.2554+46G>A
XM_017018204.1:c.1945+46G>A	XP_016873693.1:n.1945+46G>A
XM_024448668.1:c.2356+46G>A	XP_024304436.1:n.2356+46G>A
XR_001747945.2:n.4129+46G>A
XR_001747946.2:n.4060+46G>A
XR_002957189.1:n.4625G>A
NM_000352.6:c.3988+46G>A MANE Select	NP_000343.2:n.3988+46G>A
NM_001287174.2:c.3991+46G>A	NP_001274103.1:n.3991+46G>A
NM_001351295.2:c.4054+46G>A	NP_001338224.1:n.4054+46G>A
NM_001351296.2:c.3988+46G>A	NP_001338225.1:n.3988+46G>A
NM_001351297.2:c.3985+46G>A	NP_001338226.1:n.3985+46G>A
NR_147094.2:n.4183G>A
NM_001287174.3:c.3991+46G>A	NP_001274103.1:n.3991+46G>A