Canonical Allele Identifier: CA473298577

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418589T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397042T>G , CM000673.2:g.17397042T>G	GRCh38
NC_000011.9:g.17418589T>G , CM000673.1:g.17418589T>G	GRCh37
NC_000011.8:g.17375165T>G	NCBI36
NG_008867.1:g.84861A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3594A>C
ENST00000528374.2:c.584A>C
ENST00000529967.6:n.2332A>C
ENST00000532220.2:n.2241A>C
ENST00000642611.2:n.4208A>C
ENST00000644057.2:n.436A>C
ENST00000645004.2:n.1492A>C
ENST00000682051.1:n.4155A>C
ENST00000682110.1:n.4208A>C
ENST00000682140.1:c.3985+151A>C	ENSP00000507829.1:n.3985+151A>C
ENST00000682185.1:n.5298A>C
ENST00000682204.1:c.*2131A>C	ENSP00000507094.1:n.*2131A>C
ENST00000682215.1:n.4575A>C
ENST00000682288.1:c.*2424A>C	ENSP00000507506.1:n.*2424A>C
ENST00000682442.1:n.4428A>C
ENST00000682528.1:n.4285A>C
ENST00000682673.1:n.4152A>C
ENST00000682805.1:n.4575A>C
ENST00000682965.1:c.*415A>C	ENSP00000508229.1:n.*415A>C
ENST00000683093.1:n.4307A>C
ENST00000683136.1:c.3876A>C	ENSP00000507768.1:p.Pro1292=
ENST00000683153.1:n.4250A>C
ENST00000683365.1:n.4310A>C
ENST00000683377.1:n.4208A>C
ENST00000683456.1:c.*1130A>C	ENSP00000508318.1:n.*1130A>C
ENST00000683522.1:n.4208A>C
ENST00000683562.1:c.*2162A>C	ENSP00000508265.1:n.*2162A>C
ENST00000683693.1:n.4655A>C
ENST00000683725.1:c.3993A>C	ENSP00000507496.1:p.Pro1331=
ENST00000684010.1:n.4203A>C
ENST00000684157.1:n.4208A>C
ENST00000684253.1:n.4111A>C
ENST00000684288.1:c.*2165A>C	ENSP00000507143.1:n.*2165A>C
ENST00000684313.1:n.3640A>C
ENST00000684332.1:n.4281A>C
ENST00000684371.1:n.4314A>C
ENST00000684404.1:n.4251A>C
ENST00000684442.1:n.4432A>C
ENST00000684555.1:c.*2205A>C	ENSP00000507705.1:n.*2205A>C
ENST00000684571.1:c.3834A>C	ENSP00000506935.1:p.Pro1278=
ENST00000684593.1:c.*3698A>C	ENSP00000507005.1:n.*3698A>C
ENST00000684711.1:c.*2389A>C	ENSP00000506841.1:n.*2389A>C
ENST00000302539.9:c.3996A>C	ENSP00000303960.4:p.Pro1332=
ENST00000389817.8:c.3993A>C MANE Select	ENSP00000374467.4:p.Pro1331=
ENST00000642271.1:c.3990A>C	ENSP00000493749.1:p.Pro1330=
ENST00000642579.1:c.2073-26A>C
ENST00000642611.1:n.4093A>C
ENST00000642902.1:c.3775A>C
ENST00000643260.1:c.3993A>C	ENSP00000494450.1:p.Pro1331=
ENST00000643562.1:c.*2115A>C	ENSP00000496124.1:n.*2115A>C
ENST00000643925.1:c.2633A>C
ENST00000644057.1:n.70A>C
ENST00000644484.1:c.*2394A>C	ENSP00000493558.1:n.*2394A>C
ENST00000644675.1:c.*2165A>C	ENSP00000494567.1:n.*2165A>C
ENST00000644757.1:c.*2424A>C	ENSP00000495085.1:n.*2424A>C
ENST00000644772.1:c.4059A>C	ENSP00000494321.1:p.Pro1353=
ENST00000645004.1:n.1648A>C
ENST00000645076.1:c.3192A>C
ENST00000645417.1:c.1181A>C
ENST00000645744.1:c.*2773A>C	ENSP00000494564.1:n.*2773A>C
ENST00000645760.1:c.4414A>C
ENST00000645884.1:c.*1276A>C	ENSP00000495516.1:n.*1276A>C
ENST00000646003.1:c.*2095A>C	ENSP00000495259.1:n.*2095A>C
ENST00000646207.1:c.*2830A>C	ENSP00000495025.1:n.*2830A>C
ENST00000646276.1:c.*2412A>C	ENSP00000496070.1:n.*2412A>C
ENST00000646592.1:c.3299A>C
ENST00000646902.1:c.3986-26A>C	ENSP00000494101.1:n.3986-26A>C
ENST00000646993.1:c.*2535A>C	ENSP00000493720.1:n.*2535A>C
ENST00000647013.1:c.3999A>C	ENSP00000496741.1:n.3999A>C
ENST00000647015.1:c.3744A>C	ENSP00000495389.1:p.Pro1248=
ENST00000647086.1:c.*3605-26A>C	ENSP00000493677.1:n.*3605-26A>C
ENST00000647158.1:c.*2280A>C	ENSP00000495744.1:n.*2280A>C
ENST00000302539.8:c.3996A>C	ENSP00000303960.4:p.Pro1332=
ENST00000389817.7:c.3993A>C	ENSP00000374467.3:p.Pro1331=
ENST00000527905.5:c.*1015A>C	ENSP00000431653.1:n.*1015A>C
ENST00000528374.1:c.475A>C
ENST00000531137.1:n.558A>C
ENST00000531891.1:c.357-26A>C
ENST00000532220.1:n.467A>C
NM_000352.4:c.3993A>C	NP_000343.2:p.Pro1331=
NM_001287174.1:c.3996A>C	NP_001274103.1:p.Pro1332=
XM_011520331.1:c.3993A>C	XP_011518633.1:p.Pro1331=
XM_011520332.1:c.3996A>C	XP_011518634.1:p.Pro1332=
XM_011520333.1:c.2493A>C	XP_011518635.1:p.Pro831=
XR_930890.1:n.4059A>C
NM_001351295.1:c.4059A>C	NP_001338224.1:p.Pro1353=
NM_001351296.1:c.3993A>C	NP_001338225.1:p.Pro1331=
NM_001351297.1:c.3990A>C	NP_001338226.1:p.Pro1330=
NR_147094.1:n.4288A>C
XM_017018197.2:c.4062A>C	XP_016873686.1:p.Pro1354=
XM_017018199.1:c.4059A>C	XP_016873688.1:p.Pro1353=
XM_017018201.2:c.4062A>C	XP_016873690.1:p.Pro1354=
XM_017018202.1:c.2559A>C	XP_016873691.1:p.Pro853=
XM_017018204.1:c.1950A>C	XP_016873693.1:p.Pro650=
XM_024448668.1:c.2361A>C	XP_024304436.1:p.Pro787=
XR_001747945.2:n.4134A>C
XR_001747946.2:n.4065A>C
XR_002957189.1:n.4730A>C
NM_000352.6:c.3993A>C MANE Select	NP_000343.2:p.Pro1331=
NM_001287174.2:c.3996A>C	NP_001274103.1:p.Pro1332=
NM_001351295.2:c.4059A>C	NP_001338224.1:p.Pro1353=
NM_001351296.2:c.3993A>C	NP_001338225.1:p.Pro1331=
NM_001351297.2:c.3990A>C	NP_001338226.1:p.Pro1330=
NR_147094.2:n.4288A>C
NM_001287174.3:c.3996A>C	NP_001274103.1:p.Pro1332=