Canonical Allele Identifier: CA379783488

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415910T>G (hg19) ; chr11:g.17394363T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394363T>G , CM000673.2:g.17394363T>G	GRCh38
NC_000011.9:g.17415910T>G , CM000673.1:g.17415910T>G	GRCh37
NC_000011.8:g.17372486T>G	NCBI36
NG_008867.1:g.87540A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4049A>C
ENST00000526037.6:n.383A>C
ENST00000528374.2:c.1039A>C
ENST00000529967.6:n.2787A>C
ENST00000532220.2:n.3681A>C
ENST00000642611.2:n.5781A>C
ENST00000644057.2:n.1024A>C
ENST00000645004.2:n.1947A>C
ENST00000682051.1:n.4610A>C
ENST00000682110.1:n.4663A>C
ENST00000682140.1:c.*234A>C	ENSP00000507829.1:n.*234A>C
ENST00000682185.1:n.5753A>C
ENST00000682204.1:c.*2586A>C	ENSP00000507094.1:n.*2586A>C
ENST00000682215.1:n.5030A>C
ENST00000682288.1:c.*2879A>C	ENSP00000507506.1:n.*2879A>C
ENST00000682442.1:n.4883A>C
ENST00000682528.1:n.4740A>C
ENST00000682673.1:n.4607A>C
ENST00000682805.1:n.5068A>C
ENST00000682965.1:c.*870A>C	ENSP00000508229.1:n.*870A>C
ENST00000683093.1:n.5643A>C
ENST00000683136.1:c.4331A>C	ENSP00000507768.1:p.Gln1444Pro
ENST00000683153.1:n.4705A>C
ENST00000683365.1:n.4765A>C
ENST00000683377.1:n.4559A>C
ENST00000683456.1:c.*1585A>C	ENSP00000508318.1:n.*1585A>C
ENST00000683522.1:n.4745A>C
ENST00000683562.1:c.*2513A>C	ENSP00000508265.1:n.*2513A>C
ENST00000683693.1:n.6124A>C
ENST00000683725.1:c.4344A>C	ENSP00000507496.1:p.Pro1448=
ENST00000684010.1:n.4658A>C
ENST00000684014.1:n.635A>C
ENST00000684157.1:n.5648A>C
ENST00000684253.1:n.4566A>C
ENST00000684288.1:c.*2620A>C	ENSP00000507143.1:n.*2620A>C
ENST00000684313.1:n.4095A>C
ENST00000684332.1:n.4736A>C
ENST00000684371.1:n.4769A>C
ENST00000684404.1:n.5691A>C
ENST00000684442.1:n.4887A>C
ENST00000684555.1:c.*2660A>C	ENSP00000507705.1:n.*2660A>C
ENST00000684571.1:c.4289A>C	ENSP00000506935.1:p.Gln1430Pro
ENST00000684593.1:c.*4153A>C	ENSP00000507005.1:n.*4153A>C
ENST00000684711.1:c.*2844A>C	ENSP00000506841.1:n.*2844A>C
ENST00000302539.9:c.4451A>C	ENSP00000303960.4:p.Gln1484Pro
ENST00000389817.8:c.4448A>C MANE Select	ENSP00000374467.4:p.Gln1483Pro
ENST00000642271.1:c.4445A>C	ENSP00000493749.1:p.Gln1482Pro
ENST00000642579.1:c.2502A>C
ENST00000642611.1:n.5666A>C
ENST00000642902.1:c.4230A>C
ENST00000643260.1:c.4448A>C	ENSP00000494450.1:p.Gln1483Pro
ENST00000643562.1:c.*2570A>C	ENSP00000496124.1:n.*2570A>C
ENST00000643925.1:c.3088A>C
ENST00000644057.1:n.607A>C
ENST00000644484.1:c.*3834A>C	ENSP00000493558.1:n.*3834A>C
ENST00000644675.1:c.*2620A>C	ENSP00000494567.1:n.*2620A>C
ENST00000644757.1:c.*3203-1383A>C	ENSP00000495085.1:n.*3203-1383A>C
ENST00000644772.1:c.4514A>C	ENSP00000494321.1:p.Gln1505Pro
ENST00000645004.1:n.2141A>C
ENST00000645076.1:c.3543A>C
ENST00000645417.1:c.1636A>C
ENST00000645744.1:c.*4133A>C	ENSP00000494564.1:n.*4133A>C
ENST00000645760.1:c.4869A>C
ENST00000645884.1:c.*1731A>C	ENSP00000495516.1:n.*1731A>C
ENST00000646003.1:c.*2470A>C	ENSP00000495259.1:n.*2470A>C
ENST00000646207.1:c.*3285A>C	ENSP00000495025.1:n.*3285A>C
ENST00000646276.1:c.*3852A>C	ENSP00000496070.1:n.*3852A>C
ENST00000646592.1:c.3754A>C
ENST00000646902.1:c.4415A>C	ENSP00000494101.1:p.Gln1472Pro
ENST00000646993.1:c.*2886A>C	ENSP00000493720.1:n.*2886A>C
ENST00000647013.1:c.4454A>C	ENSP00000496741.1:n.4454A>C
ENST00000647015.1:c.4199A>C	ENSP00000495389.1:p.Gln1400Pro
ENST00000647086.1:c.*4034A>C	ENSP00000493677.1:n.*4034A>C
ENST00000647158.1:c.*2735A>C	ENSP00000495744.1:n.*2735A>C
ENST00000302539.8:c.4451A>C	ENSP00000303960.4:p.Gln1484Pro
ENST00000389817.7:c.4448A>C	ENSP00000374467.3:p.Gln1483Pro
ENST00000525022.1:n.343A>C
ENST00000526037.5:n.208A>C
ENST00000526168.5:c.236A>C
ENST00000531642.5:c.479A>C
NM_000352.4:c.4448A>C	NP_000343.2:p.Gln1483Pro
NM_001287174.1:c.4451A>C	NP_001274103.1:p.Gln1484Pro
XM_011520331.1:c.4448A>C	XP_011518633.1:p.Gln1483Pro
XM_011520332.1:c.4347A>C	XP_011518634.1:p.Pro1449=
XM_011520333.1:c.2948A>C	XP_011518635.1:p.Gln983Pro
XR_930890.1:n.4410A>C
NM_001351295.1:c.4514A>C	NP_001338224.1:p.Gln1505Pro
NM_001351296.1:c.4448A>C	NP_001338225.1:p.Gln1483Pro
NM_001351297.1:c.4445A>C	NP_001338226.1:p.Gln1482Pro
NR_147094.1:n.4743A>C
XM_017018197.2:c.4517A>C	XP_016873686.1:p.Gln1506Pro
XM_017018199.1:c.4514A>C	XP_016873688.1:p.Gln1505Pro
XM_017018201.2:c.4413A>C	XP_016873690.1:p.Pro1471=
XM_017018202.1:c.3014A>C	XP_016873691.1:p.Gln1005Pro
XM_017018204.1:c.2405A>C	XP_016873693.1:p.Gln802Pro
XM_024448668.1:c.2816A>C	XP_024304436.1:p.Gln939Pro
XR_001747945.2:n.4485A>C
XR_001747946.2:n.4416A>C
XR_002957189.1:n.6199A>C
NM_000352.6:c.4448A>C MANE Select	NP_000343.2:p.Gln1483Pro
NM_001287174.2:c.4451A>C	NP_001274103.1:p.Gln1484Pro
NM_001351295.2:c.4514A>C	NP_001338224.1:p.Gln1505Pro
NM_001351296.2:c.4448A>C	NP_001338225.1:p.Gln1483Pro
NM_001351297.2:c.4445A>C	NP_001338226.1:p.Gln1482Pro
NR_147094.2:n.4743A>C
NM_001287174.3:c.4451A>C	NP_001274103.1:p.Gln1484Pro