Canonical Allele Identifier: CA379788068

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417432G>C (hg19) ; chr11:g.17395885G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395885G>C , CM000673.2:g.17395885G>C	GRCh38
NC_000011.9:g.17417432G>C , CM000673.1:g.17417432G>C	GRCh37
NC_000011.8:g.17374008G>C	NCBI36
NG_008867.1:g.86018C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3766C>G
ENST00000528374.2:c.756C>G
ENST00000529967.6:n.2504C>G
ENST00000532220.2:n.3398C>G
ENST00000642611.2:n.5365C>G
ENST00000644057.2:n.608C>G
ENST00000645004.2:n.1664C>G
ENST00000682051.1:n.4327C>G
ENST00000682110.1:n.4380C>G
ENST00000682140.1:c.4031C>G	ENSP00000507829.1:p.Ser1344Cys
ENST00000682185.1:n.5470C>G
ENST00000682204.1:c.*2303C>G	ENSP00000507094.1:n.*2303C>G
ENST00000682215.1:n.4747C>G
ENST00000682288.1:c.*2596C>G	ENSP00000507506.1:n.*2596C>G
ENST00000682442.1:n.4600C>G
ENST00000682528.1:n.4457C>G
ENST00000682673.1:n.4324C>G
ENST00000682805.1:n.4785C>G
ENST00000682965.1:c.*587C>G	ENSP00000508229.1:n.*587C>G
ENST00000683093.1:n.5464C>G
ENST00000683136.1:c.4048C>G	ENSP00000507768.1:p.Leu1350Val
ENST00000683153.1:n.4422C>G
ENST00000683365.1:n.4482C>G
ENST00000683377.1:n.4380C>G
ENST00000683456.1:c.*1302C>G	ENSP00000508318.1:n.*1302C>G
ENST00000683522.1:n.4380C>G
ENST00000683562.1:c.*2334C>G	ENSP00000508265.1:n.*2334C>G
ENST00000683693.1:n.5812C>G
ENST00000683725.1:c.4165C>G	ENSP00000507496.1:p.Leu1389Val
ENST00000684010.1:n.4375C>G
ENST00000684157.1:n.5365C>G
ENST00000684253.1:n.4283C>G
ENST00000684288.1:c.*2337C>G	ENSP00000507143.1:n.*2337C>G
ENST00000684313.1:n.3812C>G
ENST00000684332.1:n.4453C>G
ENST00000684371.1:n.4486C>G
ENST00000684404.1:n.5408C>G
ENST00000684442.1:n.4604C>G
ENST00000684555.1:c.*2377C>G	ENSP00000507705.1:n.*2377C>G
ENST00000684571.1:c.4006C>G	ENSP00000506935.1:p.Leu1336Val
ENST00000684593.1:c.*3870C>G	ENSP00000507005.1:n.*3870C>G
ENST00000684711.1:c.*2561C>G	ENSP00000506841.1:n.*2561C>G
ENST00000302539.9:c.4168C>G	ENSP00000303960.4:p.Leu1390Val
ENST00000389817.8:c.4165C>G MANE Select	ENSP00000374467.4:p.Leu1389Val
ENST00000642271.1:c.4162C>G	ENSP00000493749.1:p.Leu1388Val
ENST00000642579.1:c.2219C>G
ENST00000642611.1:n.5250C>G
ENST00000642902.1:c.3947C>G
ENST00000643260.1:c.4165C>G	ENSP00000494450.1:p.Leu1389Val
ENST00000643562.1:c.*2287C>G	ENSP00000496124.1:n.*2287C>G
ENST00000643925.1:c.2805C>G
ENST00000644057.1:n.242C>G
ENST00000644484.1:c.*3551C>G	ENSP00000493558.1:n.*3551C>G
ENST00000644675.1:c.*2337C>G	ENSP00000494567.1:n.*2337C>G
ENST00000644757.1:c.*3202+379C>G	ENSP00000495085.1:n.*3202+379C>G
ENST00000644772.1:c.4231C>G	ENSP00000494321.1:p.Leu1411Val
ENST00000645004.1:n.1858C>G
ENST00000645076.1:c.3364C>G
ENST00000645417.1:c.1353C>G
ENST00000645744.1:c.*3930C>G	ENSP00000494564.1:n.*3930C>G
ENST00000645760.1:c.4586C>G
ENST00000645884.1:c.*1448C>G	ENSP00000495516.1:n.*1448C>G
ENST00000646003.1:c.*2267C>G	ENSP00000495259.1:n.*2267C>G
ENST00000646207.1:c.*3002C>G	ENSP00000495025.1:n.*3002C>G
ENST00000646276.1:c.*3569C>G	ENSP00000496070.1:n.*3569C>G
ENST00000646592.1:c.3471C>G
ENST00000646902.1:c.4132C>G	ENSP00000494101.1:p.Leu1378Val
ENST00000646993.1:c.*2707C>G	ENSP00000493720.1:n.*2707C>G
ENST00000647013.1:c.4171C>G	ENSP00000496741.1:n.4171C>G
ENST00000647015.1:c.3916C>G	ENSP00000495389.1:p.Leu1306Val
ENST00000647086.1:c.*3751C>G	ENSP00000493677.1:n.*3751C>G
ENST00000647158.1:c.*2452C>G	ENSP00000495744.1:n.*2452C>G
ENST00000302539.8:c.4168C>G	ENSP00000303960.4:p.Leu1390Val
ENST00000389817.7:c.4165C>G	ENSP00000374467.3:p.Leu1389Val
ENST00000525022.1:n.31C>G
ENST00000526168.5:c.33C>G
ENST00000531642.5:c.1C>G
NM_000352.4:c.4165C>G	NP_000343.2:p.Leu1389Val
NM_001287174.1:c.4168C>G	NP_001274103.1:p.Leu1390Val
XM_011520331.1:c.4165C>G	XP_011518633.1:p.Leu1389Val
XM_011520332.1:c.4168C>G	XP_011518634.1:p.Leu1390Val
XM_011520333.1:c.2665C>G	XP_011518635.1:p.Leu889Val
XR_930890.1:n.4231C>G
NM_001351295.1:c.4231C>G	NP_001338224.1:p.Leu1411Val
NM_001351296.1:c.4165C>G	NP_001338225.1:p.Leu1389Val
NM_001351297.1:c.4162C>G	NP_001338226.1:p.Leu1388Val
NR_147094.1:n.4460C>G
XM_017018197.2:c.4234C>G	XP_016873686.1:p.Leu1412Val
XM_017018199.1:c.4231C>G	XP_016873688.1:p.Leu1411Val
XM_017018201.2:c.4234C>G	XP_016873690.1:p.Leu1412Val
XM_017018202.1:c.2731C>G	XP_016873691.1:p.Leu911Val
XM_017018204.1:c.2122C>G	XP_016873693.1:p.Leu708Val
XM_024448668.1:c.2533C>G	XP_024304436.1:p.Leu845Val
XR_001747945.2:n.4306C>G
XR_001747946.2:n.4237C>G
XR_002957189.1:n.5887C>G
NM_000352.6:c.4165C>G MANE Select	NP_000343.2:p.Leu1389Val
NM_001287174.2:c.4168C>G	NP_001274103.1:p.Leu1390Val
NM_001351295.2:c.4231C>G	NP_001338224.1:p.Leu1411Val
NM_001351296.2:c.4165C>G	NP_001338225.1:p.Leu1389Val
NM_001351297.2:c.4162C>G	NP_001338226.1:p.Leu1388Val
NR_147094.2:n.4460C>G
NM_001287174.3:c.4168C>G	NP_001274103.1:p.Leu1390Val