Canonical Allele Identifier: CA379798416

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426173A>G (hg19) ; chr11:g.17404626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404626A>G , CM000673.2:g.17404626A>G	GRCh38
NC_000011.9:g.17426173A>G , CM000673.1:g.17426173A>G	GRCh37
NC_000011.8:g.17382749A>G	NCBI36
NG_008867.1:g.77277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3012T>C
ENST00000528374.2:c.22T>C
ENST00000529967.6:n.1782T>C
ENST00000532220.2:n.1175T>C
ENST00000642611.2:n.3512T>C
ENST00000645004.2:n.942T>C
ENST00000682051.1:n.3459T>C
ENST00000682110.1:n.3512T>C
ENST00000682140.1:c.3440T>C	ENSP00000507829.1:p.Leu1147Pro
ENST00000682185.1:n.4748T>C
ENST00000682204.1:c.*1581T>C	ENSP00000507094.1:n.*1581T>C
ENST00000682215.1:n.3509T>C
ENST00000682288.1:c.*1874T>C	ENSP00000507506.1:n.*1874T>C
ENST00000682442.1:n.3732T>C
ENST00000682528.1:n.3589T>C
ENST00000682673.1:n.3456T>C
ENST00000682805.1:n.3509T>C
ENST00000682965.1:c.3396+868T>C	ENSP00000508229.1:n.3396+868T>C
ENST00000683093.1:n.3611T>C
ENST00000683136.1:c.3440T>C	ENSP00000507768.1:p.Leu1147Pro
ENST00000683153.1:n.3668T>C
ENST00000683365.1:n.3614T>C
ENST00000683377.1:n.3512T>C
ENST00000683456.1:c.*580T>C	ENSP00000508318.1:n.*580T>C
ENST00000683522.1:n.3512T>C
ENST00000683562.1:c.*1612T>C	ENSP00000508265.1:n.*1612T>C
ENST00000683693.1:n.3589T>C
ENST00000683725.1:c.3443T>C	ENSP00000507496.1:p.Leu1148Pro
ENST00000684010.1:n.3507T>C
ENST00000684157.1:n.3512T>C
ENST00000684253.1:n.3415T>C
ENST00000684288.1:c.*1615T>C	ENSP00000507143.1:n.*1615T>C
ENST00000684313.1:n.2944T>C
ENST00000684332.1:n.3585T>C
ENST00000684371.1:n.3618T>C
ENST00000684404.1:n.3555T>C
ENST00000684442.1:n.3512T>C
ENST00000684555.1:c.*1655T>C	ENSP00000507705.1:n.*1655T>C
ENST00000684571.1:c.3284T>C	ENSP00000506935.1:p.Leu1095Pro
ENST00000684593.1:c.*3148T>C	ENSP00000507005.1:n.*3148T>C
ENST00000684711.1:c.*1839T>C	ENSP00000506841.1:n.*1839T>C
ENST00000302539.9:c.3446T>C	ENSP00000303960.4:p.Leu1149Pro
ENST00000389817.8:c.3443T>C MANE Select	ENSP00000374467.4:p.Leu1148Pro
ENST00000642271.1:c.3440T>C	ENSP00000493749.1:p.Leu1147Pro
ENST00000642579.1:c.1527T>C
ENST00000642611.1:n.3397T>C
ENST00000642902.1:c.3225T>C
ENST00000643260.1:c.3443T>C	ENSP00000494450.1:p.Leu1148Pro
ENST00000643562.1:c.*1419T>C	ENSP00000496124.1:n.*1419T>C
ENST00000643925.1:c.1567T>C
ENST00000644447.1:c.1799T>C	ENSP00000496282.1:p.Leu600Pro
ENST00000644484.1:c.*1698T>C	ENSP00000493558.1:n.*1698T>C
ENST00000644675.1:c.*1615T>C	ENSP00000494567.1:n.*1615T>C
ENST00000644757.1:c.*1728T>C	ENSP00000495085.1:n.*1728T>C
ENST00000644772.1:c.3509T>C	ENSP00000494321.1:p.Leu1170Pro
ENST00000645004.1:n.582T>C
ENST00000645076.1:c.2642T>C
ENST00000645417.1:c.609T>C
ENST00000645744.1:c.*1707T>C	ENSP00000494564.1:n.*1707T>C
ENST00000645760.1:c.3718T>C
ENST00000645884.1:c.*580T>C	ENSP00000495516.1:n.*580T>C
ENST00000646003.1:c.*1399T>C	ENSP00000495259.1:n.*1399T>C
ENST00000646207.1:c.*1910T>C	ENSP00000495025.1:n.*1910T>C
ENST00000646276.1:c.*1716T>C	ENSP00000496070.1:n.*1716T>C
ENST00000646592.1:c.2749T>C
ENST00000646902.1:c.3440T>C	ENSP00000494101.1:p.Leu1147Pro
ENST00000646993.1:c.*1839T>C	ENSP00000493720.1:n.*1839T>C
ENST00000647013.1:c.3449T>C	ENSP00000496741.1:n.3449T>C
ENST00000647015.1:c.3194T>C	ENSP00000495389.1:p.Leu1065Pro
ENST00000647086.1:c.*3173T>C	ENSP00000493677.1:n.*3173T>C
ENST00000647158.1:c.*1584T>C	ENSP00000495744.1:n.*1584T>C
ENST00000302539.8:c.3446T>C	ENSP00000303960.4:p.Leu1149Pro
ENST00000389817.7:c.3443T>C	ENSP00000374467.3:p.Leu1148Pro
ENST00000524561.1:n.575T>C
ENST00000527905.5:c.*319T>C	ENSP00000431653.1:n.*319T>C
NM_000352.4:c.3443T>C	NP_000343.2:p.Leu1148Pro
NM_001287174.1:c.3446T>C	NP_001274103.1:p.Leu1149Pro
XM_011520331.1:c.3443T>C	XP_011518633.1:p.Leu1148Pro
XM_011520332.1:c.3446T>C	XP_011518634.1:p.Leu1149Pro
XM_011520333.1:c.1943T>C	XP_011518635.1:p.Leu648Pro
XR_930890.1:n.3509T>C
XR_930892.1:n.3409T>C
XR_930893.1:n.3406T>C
NM_001351295.1:c.3509T>C	NP_001338224.1:p.Leu1170Pro
NM_001351296.1:c.3443T>C	NP_001338225.1:p.Leu1148Pro
NM_001351297.1:c.3440T>C	NP_001338226.1:p.Leu1147Pro
NR_147094.1:n.3592T>C
XM_017018197.2:c.3512T>C	XP_016873686.1:p.Leu1171Pro
XM_017018199.1:c.3509T>C	XP_016873688.1:p.Leu1170Pro
XM_017018201.2:c.3512T>C	XP_016873690.1:p.Leu1171Pro
XM_017018202.1:c.2009T>C	XP_016873691.1:p.Leu670Pro
XM_017018204.1:c.1400T>C	XP_016873693.1:p.Leu467Pro
XM_024448668.1:c.1811T>C	XP_024304436.1:p.Leu604Pro
XR_001747945.2:n.3584T>C
XR_001747946.2:n.3515T>C
XR_002957189.1:n.3664T>C
NM_000352.6:c.3443T>C MANE Select	NP_000343.2:p.Leu1148Pro
NM_001287174.2:c.3446T>C	NP_001274103.1:p.Leu1149Pro
NM_001351295.2:c.3509T>C	NP_001338224.1:p.Leu1170Pro
NM_001351296.2:c.3443T>C	NP_001338225.1:p.Leu1148Pro
NM_001351297.2:c.3440T>C	NP_001338226.1:p.Leu1147Pro
NR_147094.2:n.3592T>C
NM_001287174.3:c.3446T>C	NP_001274103.1:p.Leu1149Pro