Canonical Allele Identifier: CA379783435

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415904T>G (hg19) ; chr11:g.17394357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394357T>G , CM000673.2:g.17394357T>G	GRCh38
NC_000011.9:g.17415904T>G , CM000673.1:g.17415904T>G	GRCh37
NC_000011.8:g.17372480T>G	NCBI36
NG_008867.1:g.87546A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4055A>C
ENST00000526037.6:n.389A>C
ENST00000528374.2:c.1045A>C
ENST00000529967.6:n.2793A>C
ENST00000532220.2:n.3687A>C
ENST00000642611.2:n.5787A>C
ENST00000644057.2:n.1030A>C
ENST00000645004.2:n.1953A>C
ENST00000682051.1:n.4616A>C
ENST00000682110.1:n.4669A>C
ENST00000682140.1:c.*240A>C	ENSP00000507829.1:n.*240A>C
ENST00000682185.1:n.5759A>C
ENST00000682204.1:c.*2592A>C	ENSP00000507094.1:n.*2592A>C
ENST00000682215.1:n.5036A>C
ENST00000682288.1:c.*2885A>C	ENSP00000507506.1:n.*2885A>C
ENST00000682442.1:n.4889A>C
ENST00000682528.1:n.4746A>C
ENST00000682673.1:n.4613A>C
ENST00000682805.1:n.5074A>C
ENST00000682965.1:c.*876A>C	ENSP00000508229.1:n.*876A>C
ENST00000683093.1:n.5649A>C
ENST00000683136.1:c.4337A>C	ENSP00000507768.1:p.Gln1446Pro
ENST00000683153.1:n.4711A>C
ENST00000683365.1:n.4771A>C
ENST00000683377.1:n.4565A>C
ENST00000683456.1:c.*1591A>C	ENSP00000508318.1:n.*1591A>C
ENST00000683522.1:n.4751A>C
ENST00000683562.1:c.*2519A>C	ENSP00000508265.1:n.*2519A>C
ENST00000683693.1:n.6130A>C
ENST00000683725.1:c.4350A>C	ENSP00000507496.1:p.Thr1450=
ENST00000684010.1:n.4664A>C
ENST00000684014.1:n.641A>C
ENST00000684157.1:n.5654A>C
ENST00000684253.1:n.4572A>C
ENST00000684288.1:c.*2626A>C	ENSP00000507143.1:n.*2626A>C
ENST00000684313.1:n.4101A>C
ENST00000684332.1:n.4742A>C
ENST00000684371.1:n.4775A>C
ENST00000684404.1:n.5697A>C
ENST00000684442.1:n.4893A>C
ENST00000684555.1:c.*2666A>C	ENSP00000507705.1:n.*2666A>C
ENST00000684571.1:c.4295A>C	ENSP00000506935.1:p.Gln1432Pro
ENST00000684593.1:c.*4159A>C	ENSP00000507005.1:n.*4159A>C
ENST00000684711.1:c.*2850A>C	ENSP00000506841.1:n.*2850A>C
ENST00000302539.9:c.4457A>C	ENSP00000303960.4:p.Gln1486Pro
ENST00000389817.8:c.4454A>C MANE Select	ENSP00000374467.4:p.Gln1485Pro
ENST00000642271.1:c.4451A>C	ENSP00000493749.1:p.Gln1484Pro
ENST00000642579.1:c.2508A>C
ENST00000642611.1:n.5672A>C
ENST00000642902.1:c.4236A>C
ENST00000643260.1:c.4454A>C	ENSP00000494450.1:p.Gln1485Pro
ENST00000643562.1:c.*2576A>C	ENSP00000496124.1:n.*2576A>C
ENST00000643925.1:c.3094A>C
ENST00000644057.1:n.613A>C
ENST00000644484.1:c.*3840A>C	ENSP00000493558.1:n.*3840A>C
ENST00000644675.1:c.*2626A>C	ENSP00000494567.1:n.*2626A>C
ENST00000644757.1:c.*3203-1377A>C	ENSP00000495085.1:n.*3203-1377A>C
ENST00000644772.1:c.4520A>C	ENSP00000494321.1:p.Gln1507Pro
ENST00000645004.1:n.2147A>C
ENST00000645076.1:c.3549A>C
ENST00000645417.1:c.1642A>C
ENST00000645744.1:c.*4139A>C	ENSP00000494564.1:n.*4139A>C
ENST00000645760.1:c.4875A>C
ENST00000645884.1:c.*1737A>C	ENSP00000495516.1:n.*1737A>C
ENST00000646003.1:c.*2476A>C	ENSP00000495259.1:n.*2476A>C
ENST00000646207.1:c.*3291A>C	ENSP00000495025.1:n.*3291A>C
ENST00000646276.1:c.*3858A>C	ENSP00000496070.1:n.*3858A>C
ENST00000646592.1:c.3760A>C
ENST00000646902.1:c.4421A>C	ENSP00000494101.1:p.Gln1474Pro
ENST00000646993.1:c.*2892A>C	ENSP00000493720.1:n.*2892A>C
ENST00000647013.1:c.4460A>C	ENSP00000496741.1:n.4460A>C
ENST00000647015.1:c.4205A>C	ENSP00000495389.1:p.Gln1402Pro
ENST00000647086.1:c.*4040A>C	ENSP00000493677.1:n.*4040A>C
ENST00000647158.1:c.*2741A>C	ENSP00000495744.1:n.*2741A>C
ENST00000302539.8:c.4457A>C	ENSP00000303960.4:p.Gln1486Pro
ENST00000389817.7:c.4454A>C	ENSP00000374467.3:p.Gln1485Pro
ENST00000525022.1:n.349A>C
ENST00000526037.5:n.214A>C
ENST00000526168.5:c.242A>C
ENST00000531642.5:c.485A>C
NM_000352.4:c.4454A>C	NP_000343.2:p.Gln1485Pro
NM_001287174.1:c.4457A>C	NP_001274103.1:p.Gln1486Pro
XM_011520331.1:c.4454A>C	XP_011518633.1:p.Gln1485Pro
XM_011520332.1:c.4353A>C	XP_011518634.1:p.Thr1451=
XM_011520333.1:c.2954A>C	XP_011518635.1:p.Gln985Pro
XR_930890.1:n.4416A>C
NM_001351295.1:c.4520A>C	NP_001338224.1:p.Gln1507Pro
NM_001351296.1:c.4454A>C	NP_001338225.1:p.Gln1485Pro
NM_001351297.1:c.4451A>C	NP_001338226.1:p.Gln1484Pro
NR_147094.1:n.4749A>C
XM_017018197.2:c.4523A>C	XP_016873686.1:p.Gln1508Pro
XM_017018199.1:c.4520A>C	XP_016873688.1:p.Gln1507Pro
XM_017018201.2:c.4419A>C	XP_016873690.1:p.Thr1473=
XM_017018202.1:c.3020A>C	XP_016873691.1:p.Gln1007Pro
XM_017018204.1:c.2411A>C	XP_016873693.1:p.Gln804Pro
XM_024448668.1:c.2822A>C	XP_024304436.1:p.Gln941Pro
XR_001747945.2:n.4491A>C
XR_001747946.2:n.4422A>C
XR_002957189.1:n.6205A>C
NM_000352.6:c.4454A>C MANE Select	NP_000343.2:p.Gln1485Pro
NM_001287174.2:c.4457A>C	NP_001274103.1:p.Gln1486Pro
NM_001351295.2:c.4520A>C	NP_001338224.1:p.Gln1507Pro
NM_001351296.2:c.4454A>C	NP_001338225.1:p.Gln1485Pro
NM_001351297.2:c.4451A>C	NP_001338226.1:p.Gln1484Pro
NR_147094.2:n.4749A>C
NM_001287174.3:c.4457A>C	NP_001274103.1:p.Gln1486Pro