Canonical Allele Identifier: CA379790804

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418542T>G (hg19) ; chr11:g.17396995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396995T>G , CM000673.2:g.17396995T>G	GRCh38
NC_000011.9:g.17418542T>G , CM000673.1:g.17418542T>G	GRCh37
NC_000011.8:g.17375118T>G	NCBI36
NG_008867.1:g.84908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3641A>C
ENST00000528374.2:c.631A>C
ENST00000529967.6:n.2379A>C
ENST00000532220.2:n.2288A>C
ENST00000642611.2:n.4255A>C
ENST00000644057.2:n.483A>C
ENST00000645004.2:n.1539A>C
ENST00000682051.1:n.4202A>C
ENST00000682110.1:n.4255A>C
ENST00000682140.1:c.3985+198A>C	ENSP00000507829.1:n.3985+198A>C
ENST00000682185.1:n.5345A>C
ENST00000682204.1:c.*2178A>C	ENSP00000507094.1:n.*2178A>C
ENST00000682215.1:n.4622A>C
ENST00000682288.1:c.*2471A>C	ENSP00000507506.1:n.*2471A>C
ENST00000682442.1:n.4475A>C
ENST00000682528.1:n.4332A>C
ENST00000682673.1:n.4199A>C
ENST00000682805.1:n.4622A>C
ENST00000682965.1:c.*462A>C	ENSP00000508229.1:n.*462A>C
ENST00000683093.1:n.4354A>C
ENST00000683136.1:c.3923A>C	ENSP00000507768.1:p.Gln1308Pro
ENST00000683153.1:n.4297A>C
ENST00000683365.1:n.4357A>C
ENST00000683377.1:n.4255A>C
ENST00000683456.1:c.*1177A>C	ENSP00000508318.1:n.*1177A>C
ENST00000683522.1:n.4255A>C
ENST00000683562.1:c.*2209A>C	ENSP00000508265.1:n.*2209A>C
ENST00000683693.1:n.4702A>C
ENST00000683725.1:c.4040A>C	ENSP00000507496.1:p.Gln1347Pro
ENST00000684010.1:n.4250A>C
ENST00000684157.1:n.4255A>C
ENST00000684253.1:n.4158A>C
ENST00000684288.1:c.*2212A>C	ENSP00000507143.1:n.*2212A>C
ENST00000684313.1:n.3687A>C
ENST00000684332.1:n.4328A>C
ENST00000684371.1:n.4361A>C
ENST00000684404.1:n.4298A>C
ENST00000684442.1:n.4479A>C
ENST00000684555.1:c.*2252A>C	ENSP00000507705.1:n.*2252A>C
ENST00000684571.1:c.3881A>C	ENSP00000506935.1:p.Gln1294Pro
ENST00000684593.1:c.*3745A>C	ENSP00000507005.1:n.*3745A>C
ENST00000684711.1:c.*2436A>C	ENSP00000506841.1:n.*2436A>C
ENST00000302539.9:c.4043A>C	ENSP00000303960.4:p.Gln1348Pro
ENST00000389817.8:c.4040A>C MANE Select	ENSP00000374467.4:p.Gln1347Pro
ENST00000642271.1:c.4037A>C	ENSP00000493749.1:p.Gln1346Pro
ENST00000642579.1:c.2094A>C
ENST00000642611.1:n.4140A>C
ENST00000642902.1:c.3822A>C
ENST00000643260.1:c.4040A>C	ENSP00000494450.1:p.Gln1347Pro
ENST00000643562.1:c.*2162A>C	ENSP00000496124.1:n.*2162A>C
ENST00000643925.1:c.2680A>C
ENST00000644057.1:n.117A>C
ENST00000644484.1:c.*2441A>C	ENSP00000493558.1:n.*2441A>C
ENST00000644675.1:c.*2212A>C	ENSP00000494567.1:n.*2212A>C
ENST00000644757.1:c.*2471A>C	ENSP00000495085.1:n.*2471A>C
ENST00000644772.1:c.4106A>C	ENSP00000494321.1:p.Gln1369Pro
ENST00000645004.1:n.1695A>C
ENST00000645076.1:c.3239A>C
ENST00000645417.1:c.1228A>C
ENST00000645744.1:c.*2820A>C	ENSP00000494564.1:n.*2820A>C
ENST00000645760.1:c.4461A>C
ENST00000645884.1:c.*1323A>C	ENSP00000495516.1:n.*1323A>C
ENST00000646003.1:c.*2142A>C	ENSP00000495259.1:n.*2142A>C
ENST00000646207.1:c.*2877A>C	ENSP00000495025.1:n.*2877A>C
ENST00000646276.1:c.*2459A>C	ENSP00000496070.1:n.*2459A>C
ENST00000646592.1:c.3346A>C
ENST00000646902.1:c.4007A>C	ENSP00000494101.1:p.Gln1336Pro
ENST00000646993.1:c.*2582A>C	ENSP00000493720.1:n.*2582A>C
ENST00000647013.1:c.4046A>C	ENSP00000496741.1:n.4046A>C
ENST00000647015.1:c.3791A>C	ENSP00000495389.1:p.Gln1264Pro
ENST00000647086.1:c.*3626A>C	ENSP00000493677.1:n.*3626A>C
ENST00000647158.1:c.*2327A>C	ENSP00000495744.1:n.*2327A>C
ENST00000302539.8:c.4043A>C	ENSP00000303960.4:p.Gln1348Pro
ENST00000389817.7:c.4040A>C	ENSP00000374467.3:p.Gln1347Pro
ENST00000527905.5:c.*1062A>C	ENSP00000431653.1:n.*1062A>C
ENST00000528374.1:c.522A>C
ENST00000531137.1:n.605A>C
ENST00000531891.1:c.378A>C
ENST00000532220.1:n.514A>C
NM_000352.4:c.4040A>C	NP_000343.2:p.Gln1347Pro
NM_001287174.1:c.4043A>C	NP_001274103.1:p.Gln1348Pro
XM_011520331.1:c.4040A>C	XP_011518633.1:p.Gln1347Pro
XM_011520332.1:c.4043A>C	XP_011518634.1:p.Gln1348Pro
XM_011520333.1:c.2540A>C	XP_011518635.1:p.Gln847Pro
XR_930890.1:n.4106A>C
NM_001351295.1:c.4106A>C	NP_001338224.1:p.Gln1369Pro
NM_001351296.1:c.4040A>C	NP_001338225.1:p.Gln1347Pro
NM_001351297.1:c.4037A>C	NP_001338226.1:p.Gln1346Pro
NR_147094.1:n.4335A>C
XM_017018197.2:c.4109A>C	XP_016873686.1:p.Gln1370Pro
XM_017018199.1:c.4106A>C	XP_016873688.1:p.Gln1369Pro
XM_017018201.2:c.4109A>C	XP_016873690.1:p.Gln1370Pro
XM_017018202.1:c.2606A>C	XP_016873691.1:p.Gln869Pro
XM_017018204.1:c.1997A>C	XP_016873693.1:p.Gln666Pro
XM_024448668.1:c.2408A>C	XP_024304436.1:p.Gln803Pro
XR_001747945.2:n.4181A>C
XR_001747946.2:n.4112A>C
XR_002957189.1:n.4777A>C
NM_000352.6:c.4040A>C MANE Select	NP_000343.2:p.Gln1347Pro
NM_001287174.2:c.4043A>C	NP_001274103.1:p.Gln1348Pro
NM_001351295.2:c.4106A>C	NP_001338224.1:p.Gln1369Pro
NM_001351296.2:c.4040A>C	NP_001338225.1:p.Gln1347Pro
NM_001351297.2:c.4037A>C	NP_001338226.1:p.Gln1346Pro
NR_147094.2:n.4335A>C
NM_001287174.3:c.4043A>C	NP_001274103.1:p.Gln1348Pro