Canonical Allele Identifier: CA379788434

Gene: ABCC8

Linked Data

• dbSNP Id: rs1290469080
• gnomAD v4: 11-17395917-C-A
• MyVariant Identifiers: chr11:g.17417464C>A (hg19) ; chr11:g.17395917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395917C>A , CM000673.2:g.17395917C>A	GRCh38
NC_000011.9:g.17417464C>A , CM000673.1:g.17417464C>A	GRCh37
NC_000011.8:g.17374040C>A	NCBI36
NG_008867.1:g.85986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3734G>T
ENST00000528374.2:c.724G>T
ENST00000529967.6:n.2472G>T
ENST00000532220.2:n.3366G>T
ENST00000642611.2:n.5333G>T
ENST00000644057.2:n.576G>T
ENST00000645004.2:n.1632G>T
ENST00000682051.1:n.4295G>T
ENST00000682110.1:n.4348G>T
ENST00000682140.1:c.3999G>T	ENSP00000507829.1:p.Arg1333=
ENST00000682185.1:n.5438G>T
ENST00000682204.1:c.*2271G>T	ENSP00000507094.1:n.*2271G>T
ENST00000682215.1:n.4715G>T
ENST00000682288.1:c.*2564G>T	ENSP00000507506.1:n.*2564G>T
ENST00000682442.1:n.4568G>T
ENST00000682528.1:n.4425G>T
ENST00000682673.1:n.4292G>T
ENST00000682805.1:n.4753G>T
ENST00000682965.1:c.*555G>T	ENSP00000508229.1:n.*555G>T
ENST00000683093.1:n.5432G>T
ENST00000683136.1:c.4016G>T	ENSP00000507768.1:p.Gly1339Val
ENST00000683153.1:n.4390G>T
ENST00000683365.1:n.4450G>T
ENST00000683377.1:n.4348G>T
ENST00000683456.1:c.*1270G>T	ENSP00000508318.1:n.*1270G>T
ENST00000683522.1:n.4348G>T
ENST00000683562.1:c.*2302G>T	ENSP00000508265.1:n.*2302G>T
ENST00000683693.1:n.5780G>T
ENST00000683725.1:c.4133G>T	ENSP00000507496.1:p.Gly1378Val
ENST00000684010.1:n.4343G>T
ENST00000684157.1:n.5333G>T
ENST00000684253.1:n.4251G>T
ENST00000684288.1:c.*2305G>T	ENSP00000507143.1:n.*2305G>T
ENST00000684313.1:n.3780G>T
ENST00000684332.1:n.4421G>T
ENST00000684371.1:n.4454G>T
ENST00000684404.1:n.5376G>T
ENST00000684442.1:n.4572G>T
ENST00000684555.1:c.*2345G>T	ENSP00000507705.1:n.*2345G>T
ENST00000684571.1:c.3974G>T	ENSP00000506935.1:p.Gly1325Val
ENST00000684593.1:c.*3838G>T	ENSP00000507005.1:n.*3838G>T
ENST00000684711.1:c.*2529G>T	ENSP00000506841.1:n.*2529G>T
ENST00000302539.9:c.4136G>T	ENSP00000303960.4:p.Gly1379Val
ENST00000389817.8:c.4133G>T MANE Select	ENSP00000374467.4:p.Gly1378Val
ENST00000642271.1:c.4130G>T	ENSP00000493749.1:p.Gly1377Val
ENST00000642579.1:c.2187G>T
ENST00000642611.1:n.5218G>T
ENST00000642902.1:c.3915G>T
ENST00000643260.1:c.4133G>T	ENSP00000494450.1:p.Gly1378Val
ENST00000643562.1:c.*2255G>T	ENSP00000496124.1:n.*2255G>T
ENST00000643925.1:c.2773G>T
ENST00000644057.1:n.210G>T
ENST00000644484.1:c.*3519G>T	ENSP00000493558.1:n.*3519G>T
ENST00000644675.1:c.*2305G>T	ENSP00000494567.1:n.*2305G>T
ENST00000644757.1:c.*3202+347G>T	ENSP00000495085.1:n.*3202+347G>T
ENST00000644772.1:c.4199G>T	ENSP00000494321.1:p.Gly1400Val
ENST00000645004.1:n.1826G>T
ENST00000645076.1:c.3332G>T
ENST00000645417.1:c.1321G>T
ENST00000645744.1:c.*3898G>T	ENSP00000494564.1:n.*3898G>T
ENST00000645760.1:c.4554G>T
ENST00000645884.1:c.*1416G>T	ENSP00000495516.1:n.*1416G>T
ENST00000646003.1:c.*2235G>T	ENSP00000495259.1:n.*2235G>T
ENST00000646207.1:c.*2970G>T	ENSP00000495025.1:n.*2970G>T
ENST00000646276.1:c.*3537G>T	ENSP00000496070.1:n.*3537G>T
ENST00000646592.1:c.3439G>T
ENST00000646902.1:c.4100G>T	ENSP00000494101.1:p.Gly1367Val
ENST00000646993.1:c.*2675G>T	ENSP00000493720.1:n.*2675G>T
ENST00000647013.1:c.4139G>T	ENSP00000496741.1:n.4139G>T
ENST00000647015.1:c.3884G>T	ENSP00000495389.1:p.Gly1295Val
ENST00000647086.1:c.*3719G>T	ENSP00000493677.1:n.*3719G>T
ENST00000647158.1:c.*2420G>T	ENSP00000495744.1:n.*2420G>T
ENST00000302539.8:c.4136G>T	ENSP00000303960.4:p.Gly1379Val
ENST00000389817.7:c.4133G>T	ENSP00000374467.3:p.Gly1378Val
ENST00000526168.5:c.1G>T
ENST00000532220.1:n.607G>T
NM_000352.4:c.4133G>T	NP_000343.2:p.Gly1378Val
NM_001287174.1:c.4136G>T	NP_001274103.1:p.Gly1379Val
XM_011520331.1:c.4133G>T	XP_011518633.1:p.Gly1378Val
XM_011520332.1:c.4136G>T	XP_011518634.1:p.Gly1379Val
XM_011520333.1:c.2633G>T	XP_011518635.1:p.Gly878Val
XR_930890.1:n.4199G>T
NM_001351295.1:c.4199G>T	NP_001338224.1:p.Gly1400Val
NM_001351296.1:c.4133G>T	NP_001338225.1:p.Gly1378Val
NM_001351297.1:c.4130G>T	NP_001338226.1:p.Gly1377Val
NR_147094.1:n.4428G>T
XM_017018197.2:c.4202G>T	XP_016873686.1:p.Gly1401Val
XM_017018199.1:c.4199G>T	XP_016873688.1:p.Gly1400Val
XM_017018201.2:c.4202G>T	XP_016873690.1:p.Gly1401Val
XM_017018202.1:c.2699G>T	XP_016873691.1:p.Gly900Val
XM_017018204.1:c.2090G>T	XP_016873693.1:p.Gly697Val
XM_024448668.1:c.2501G>T	XP_024304436.1:p.Gly834Val
XR_001747945.2:n.4274G>T
XR_001747946.2:n.4205G>T
XR_002957189.1:n.5855G>T
NM_000352.6:c.4133G>T MANE Select	NP_000343.2:p.Gly1378Val
NM_001287174.2:c.4136G>T	NP_001274103.1:p.Gly1379Val
NM_001351295.2:c.4199G>T	NP_001338224.1:p.Gly1400Val
NM_001351296.2:c.4133G>T	NP_001338225.1:p.Gly1378Val
NM_001351297.2:c.4130G>T	NP_001338226.1:p.Gly1377Val
NR_147094.2:n.4428G>T
NM_001287174.3:c.4136G>T	NP_001274103.1:p.Gly1379Val