Canonical Allele Identifier: CA473298471

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418505C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396958C>G , CM000673.2:g.17396958C>G	GRCh38
NC_000011.9:g.17418505C>G , CM000673.1:g.17418505C>G	GRCh37
NC_000011.8:g.17375081C>G	NCBI36
NG_008867.1:g.84945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3678G>C
ENST00000528374.2:c.668G>C
ENST00000529967.6:n.2416G>C
ENST00000532220.2:n.2325G>C
ENST00000642611.2:n.4292G>C
ENST00000644057.2:n.520G>C
ENST00000645004.2:n.1576G>C
ENST00000682051.1:n.4239G>C
ENST00000682110.1:n.4292G>C
ENST00000682140.1:c.3985+235G>C	ENSP00000507829.1:n.3985+235G>C
ENST00000682185.1:n.5382G>C
ENST00000682204.1:c.*2215G>C	ENSP00000507094.1:n.*2215G>C
ENST00000682215.1:n.4659G>C
ENST00000682288.1:c.*2508G>C	ENSP00000507506.1:n.*2508G>C
ENST00000682442.1:n.4512G>C
ENST00000682528.1:n.4369G>C
ENST00000682673.1:n.4236G>C
ENST00000682805.1:n.4659G>C
ENST00000682965.1:c.*499G>C	ENSP00000508229.1:n.*499G>C
ENST00000683093.1:n.4391G>C
ENST00000683136.1:c.3960G>C	ENSP00000507768.1:p.Pro1320=
ENST00000683153.1:n.4334G>C
ENST00000683365.1:n.4394G>C
ENST00000683377.1:n.4292G>C
ENST00000683456.1:c.*1214G>C	ENSP00000508318.1:n.*1214G>C
ENST00000683522.1:n.4292G>C
ENST00000683562.1:c.*2246G>C	ENSP00000508265.1:n.*2246G>C
ENST00000683693.1:n.4739G>C
ENST00000683725.1:c.4077G>C	ENSP00000507496.1:p.Pro1359=
ENST00000684010.1:n.4287G>C
ENST00000684157.1:n.4292G>C
ENST00000684253.1:n.4195G>C
ENST00000684288.1:c.*2249G>C	ENSP00000507143.1:n.*2249G>C
ENST00000684313.1:n.3724G>C
ENST00000684332.1:n.4365G>C
ENST00000684371.1:n.4398G>C
ENST00000684404.1:n.4335G>C
ENST00000684442.1:n.4516G>C
ENST00000684555.1:c.*2289G>C	ENSP00000507705.1:n.*2289G>C
ENST00000684571.1:c.3918G>C	ENSP00000506935.1:p.Pro1306=
ENST00000684593.1:c.*3782G>C	ENSP00000507005.1:n.*3782G>C
ENST00000684711.1:c.*2473G>C	ENSP00000506841.1:n.*2473G>C
ENST00000302539.9:c.4080G>C	ENSP00000303960.4:p.Pro1360=
ENST00000389817.8:c.4077G>C MANE Select	ENSP00000374467.4:p.Pro1359=
ENST00000642271.1:c.4074G>C	ENSP00000493749.1:p.Pro1358=
ENST00000642579.1:c.2131G>C
ENST00000642611.1:n.4177G>C
ENST00000642902.1:c.3859G>C
ENST00000643260.1:c.4077G>C	ENSP00000494450.1:p.Pro1359=
ENST00000643562.1:c.*2199G>C	ENSP00000496124.1:n.*2199G>C
ENST00000643925.1:c.2717G>C
ENST00000644057.1:n.154G>C
ENST00000644484.1:c.*2478G>C	ENSP00000493558.1:n.*2478G>C
ENST00000644675.1:c.*2249G>C	ENSP00000494567.1:n.*2249G>C
ENST00000644757.1:c.*2508G>C	ENSP00000495085.1:n.*2508G>C
ENST00000644772.1:c.4143G>C	ENSP00000494321.1:p.Pro1381=
ENST00000645004.1:n.1732G>C
ENST00000645076.1:c.3276G>C
ENST00000645417.1:c.1265G>C
ENST00000645744.1:c.*2857G>C	ENSP00000494564.1:n.*2857G>C
ENST00000645760.1:c.4498G>C
ENST00000645884.1:c.*1360G>C	ENSP00000495516.1:n.*1360G>C
ENST00000646003.1:c.*2179G>C	ENSP00000495259.1:n.*2179G>C
ENST00000646207.1:c.*2914G>C	ENSP00000495025.1:n.*2914G>C
ENST00000646276.1:c.*2496G>C	ENSP00000496070.1:n.*2496G>C
ENST00000646592.1:c.3383G>C
ENST00000646902.1:c.4044G>C	ENSP00000494101.1:p.Pro1348=
ENST00000646993.1:c.*2619G>C	ENSP00000493720.1:n.*2619G>C
ENST00000647013.1:c.4083G>C	ENSP00000496741.1:n.4083G>C
ENST00000647015.1:c.3828G>C	ENSP00000495389.1:p.Pro1276=
ENST00000647086.1:c.*3663G>C	ENSP00000493677.1:n.*3663G>C
ENST00000647158.1:c.*2364G>C	ENSP00000495744.1:n.*2364G>C
ENST00000302539.8:c.4080G>C	ENSP00000303960.4:p.Pro1360=
ENST00000389817.7:c.4077G>C	ENSP00000374467.3:p.Pro1359=
ENST00000527905.5:c.*1099G>C	ENSP00000431653.1:n.*1099G>C
ENST00000528374.1:c.559G>C
ENST00000531137.1:n.642G>C
ENST00000531891.1:c.415G>C
ENST00000532220.1:n.551G>C
NM_000352.4:c.4077G>C	NP_000343.2:p.Pro1359=
NM_001287174.1:c.4080G>C	NP_001274103.1:p.Pro1360=
XM_011520331.1:c.4077G>C	XP_011518633.1:p.Pro1359=
XM_011520332.1:c.4080G>C	XP_011518634.1:p.Pro1360=
XM_011520333.1:c.2577G>C	XP_011518635.1:p.Pro859=
XR_930890.1:n.4143G>C
NM_001351295.1:c.4143G>C	NP_001338224.1:p.Pro1381=
NM_001351296.1:c.4077G>C	NP_001338225.1:p.Pro1359=
NM_001351297.1:c.4074G>C	NP_001338226.1:p.Pro1358=
NR_147094.1:n.4372G>C
XM_017018197.2:c.4146G>C	XP_016873686.1:p.Pro1382=
XM_017018199.1:c.4143G>C	XP_016873688.1:p.Pro1381=
XM_017018201.2:c.4146G>C	XP_016873690.1:p.Pro1382=
XM_017018202.1:c.2643G>C	XP_016873691.1:p.Pro881=
XM_017018204.1:c.2034G>C	XP_016873693.1:p.Pro678=
XM_024448668.1:c.2445G>C	XP_024304436.1:p.Pro815=
XR_001747945.2:n.4218G>C
XR_001747946.2:n.4149G>C
XR_002957189.1:n.4814G>C
NM_000352.6:c.4077G>C MANE Select	NP_000343.2:p.Pro1359=
NM_001287174.2:c.4080G>C	NP_001274103.1:p.Pro1360=
NM_001351295.2:c.4143G>C	NP_001338224.1:p.Pro1381=
NM_001351296.2:c.4077G>C	NP_001338225.1:p.Pro1359=
NM_001351297.2:c.4074G>C	NP_001338226.1:p.Pro1358=
NR_147094.2:n.4372G>C
NM_001287174.3:c.4080G>C	NP_001274103.1:p.Pro1360=