Canonical Allele Identifier: CA379787717

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417401T>G (hg19) ; chr11:g.17395854T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395854T>G , CM000673.2:g.17395854T>G	GRCh38
NC_000011.9:g.17417401T>G , CM000673.1:g.17417401T>G	GRCh37
NC_000011.8:g.17373977T>G	NCBI36
NG_008867.1:g.86049A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3797A>C
ENST00000528374.2:c.787A>C
ENST00000529967.6:n.2535A>C
ENST00000532220.2:n.3429A>C
ENST00000642611.2:n.5396A>C
ENST00000644057.2:n.639A>C
ENST00000645004.2:n.1695A>C
ENST00000682051.1:n.4358A>C
ENST00000682110.1:n.4411A>C
ENST00000682140.1:c.4062A>C	ENSP00000507829.1:p.Arg1354=
ENST00000682185.1:n.5501A>C
ENST00000682204.1:c.*2334A>C	ENSP00000507094.1:n.*2334A>C
ENST00000682215.1:n.4778A>C
ENST00000682288.1:c.*2627A>C	ENSP00000507506.1:n.*2627A>C
ENST00000682442.1:n.4631A>C
ENST00000682528.1:n.4488A>C
ENST00000682673.1:n.4355A>C
ENST00000682805.1:n.4816A>C
ENST00000682965.1:c.*618A>C	ENSP00000508229.1:n.*618A>C
ENST00000683093.1:n.5495A>C
ENST00000683136.1:c.4079A>C	ENSP00000507768.1:p.Glu1360Ala
ENST00000683153.1:n.4453A>C
ENST00000683365.1:n.4513A>C
ENST00000683377.1:n.4411A>C
ENST00000683456.1:c.*1333A>C	ENSP00000508318.1:n.*1333A>C
ENST00000683522.1:n.4411A>C
ENST00000683562.1:c.*2365A>C	ENSP00000508265.1:n.*2365A>C
ENST00000683693.1:n.5843A>C
ENST00000683725.1:c.4196A>C	ENSP00000507496.1:p.Glu1399Ala
ENST00000684010.1:n.4406A>C
ENST00000684157.1:n.5396A>C
ENST00000684253.1:n.4314A>C
ENST00000684288.1:c.*2368A>C	ENSP00000507143.1:n.*2368A>C
ENST00000684313.1:n.3843A>C
ENST00000684332.1:n.4484A>C
ENST00000684371.1:n.4517A>C
ENST00000684404.1:n.5439A>C
ENST00000684442.1:n.4635A>C
ENST00000684555.1:c.*2408A>C	ENSP00000507705.1:n.*2408A>C
ENST00000684571.1:c.4037A>C	ENSP00000506935.1:p.Glu1346Ala
ENST00000684593.1:c.*3901A>C	ENSP00000507005.1:n.*3901A>C
ENST00000684711.1:c.*2592A>C	ENSP00000506841.1:n.*2592A>C
ENST00000302539.9:c.4199A>C	ENSP00000303960.4:p.Glu1400Ala
ENST00000389817.8:c.4196A>C MANE Select	ENSP00000374467.4:p.Glu1399Ala
ENST00000642271.1:c.4193A>C	ENSP00000493749.1:p.Glu1398Ala
ENST00000642579.1:c.2250A>C
ENST00000642611.1:n.5281A>C
ENST00000642902.1:c.3978A>C
ENST00000643260.1:c.4196A>C	ENSP00000494450.1:p.Glu1399Ala
ENST00000643562.1:c.*2318A>C	ENSP00000496124.1:n.*2318A>C
ENST00000643925.1:c.2836A>C
ENST00000644057.1:n.273A>C
ENST00000644484.1:c.*3582A>C	ENSP00000493558.1:n.*3582A>C
ENST00000644675.1:c.*2368A>C	ENSP00000494567.1:n.*2368A>C
ENST00000644757.1:c.*3202+410A>C	ENSP00000495085.1:n.*3202+410A>C
ENST00000644772.1:c.4262A>C	ENSP00000494321.1:p.Glu1421Ala
ENST00000645004.1:n.1889A>C
ENST00000645076.1:c.3395A>C
ENST00000645417.1:c.1384A>C
ENST00000645744.1:c.*3961A>C	ENSP00000494564.1:n.*3961A>C
ENST00000645760.1:c.4617A>C
ENST00000645884.1:c.*1479A>C	ENSP00000495516.1:n.*1479A>C
ENST00000646003.1:c.*2298A>C	ENSP00000495259.1:n.*2298A>C
ENST00000646207.1:c.*3033A>C	ENSP00000495025.1:n.*3033A>C
ENST00000646276.1:c.*3600A>C	ENSP00000496070.1:n.*3600A>C
ENST00000646592.1:c.3502A>C
ENST00000646902.1:c.4163A>C	ENSP00000494101.1:p.Glu1388Ala
ENST00000646993.1:c.*2738A>C	ENSP00000493720.1:n.*2738A>C
ENST00000647013.1:c.4202A>C	ENSP00000496741.1:n.4202A>C
ENST00000647015.1:c.3947A>C	ENSP00000495389.1:p.Glu1316Ala
ENST00000647086.1:c.*3782A>C	ENSP00000493677.1:n.*3782A>C
ENST00000647158.1:c.*2483A>C	ENSP00000495744.1:n.*2483A>C
ENST00000302539.8:c.4199A>C	ENSP00000303960.4:p.Glu1400Ala
ENST00000389817.7:c.4196A>C	ENSP00000374467.3:p.Glu1399Ala
ENST00000525022.1:n.62A>C
ENST00000526168.5:c.64A>C
ENST00000531642.5:c.32A>C
NM_000352.4:c.4196A>C	NP_000343.2:p.Glu1399Ala
NM_001287174.1:c.4199A>C	NP_001274103.1:p.Glu1400Ala
XM_011520331.1:c.4196A>C	XP_011518633.1:p.Glu1399Ala
XM_011520332.1:c.4199A>C	XP_011518634.1:p.Glu1400Ala
XM_011520333.1:c.2696A>C	XP_011518635.1:p.Glu899Ala
XR_930890.1:n.4262A>C
NM_001351295.1:c.4262A>C	NP_001338224.1:p.Glu1421Ala
NM_001351296.1:c.4196A>C	NP_001338225.1:p.Glu1399Ala
NM_001351297.1:c.4193A>C	NP_001338226.1:p.Glu1398Ala
NR_147094.1:n.4491A>C
XM_017018197.2:c.4265A>C	XP_016873686.1:p.Glu1422Ala
XM_017018199.1:c.4262A>C	XP_016873688.1:p.Glu1421Ala
XM_017018201.2:c.4265A>C	XP_016873690.1:p.Glu1422Ala
XM_017018202.1:c.2762A>C	XP_016873691.1:p.Glu921Ala
XM_017018204.1:c.2153A>C	XP_016873693.1:p.Glu718Ala
XM_024448668.1:c.2564A>C	XP_024304436.1:p.Glu855Ala
XR_001747945.2:n.4337A>C
XR_001747946.2:n.4268A>C
XR_002957189.1:n.5918A>C
NM_000352.6:c.4196A>C MANE Select	NP_000343.2:p.Glu1399Ala
NM_001287174.2:c.4199A>C	NP_001274103.1:p.Glu1400Ala
NM_001351295.2:c.4262A>C	NP_001338224.1:p.Glu1421Ala
NM_001351296.2:c.4196A>C	NP_001338225.1:p.Glu1399Ala
NM_001351297.2:c.4193A>C	NP_001338226.1:p.Glu1398Ala
NR_147094.2:n.4491A>C
NM_001287174.3:c.4199A>C	NP_001274103.1:p.Glu1400Ala