Canonical Allele Identifier: CA379783560

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415916A>G (hg19) ; chr11:g.17394369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394369A>G , CM000673.2:g.17394369A>G	GRCh38
NC_000011.9:g.17415916A>G , CM000673.1:g.17415916A>G	GRCh37
NC_000011.8:g.17372492A>G	NCBI36
NG_008867.1:g.87534T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4043T>C
ENST00000526037.6:n.377T>C
ENST00000528374.2:c.1033T>C
ENST00000529967.6:n.2781T>C
ENST00000532220.2:n.3675T>C
ENST00000642611.2:n.5775T>C
ENST00000644057.2:n.1018T>C
ENST00000645004.2:n.1941T>C
ENST00000682051.1:n.4604T>C
ENST00000682110.1:n.4657T>C
ENST00000682140.1:c.*228T>C	ENSP00000507829.1:n.*228T>C
ENST00000682185.1:n.5747T>C
ENST00000682204.1:c.*2580T>C	ENSP00000507094.1:n.*2580T>C
ENST00000682215.1:n.5024T>C
ENST00000682288.1:c.*2873T>C	ENSP00000507506.1:n.*2873T>C
ENST00000682442.1:n.4877T>C
ENST00000682528.1:n.4734T>C
ENST00000682673.1:n.4601T>C
ENST00000682805.1:n.5062T>C
ENST00000682965.1:c.*864T>C	ENSP00000508229.1:n.*864T>C
ENST00000683093.1:n.5637T>C
ENST00000683136.1:c.4325T>C	ENSP00000507768.1:p.Phe1442Ser
ENST00000683153.1:n.4699T>C
ENST00000683365.1:n.4759T>C
ENST00000683377.1:n.4553T>C
ENST00000683456.1:c.*1579T>C	ENSP00000508318.1:n.*1579T>C
ENST00000683522.1:n.4739T>C
ENST00000683562.1:c.*2507T>C	ENSP00000508265.1:n.*2507T>C
ENST00000683693.1:n.6118T>C
ENST00000683725.1:c.4338T>C	ENSP00000507496.1:p.Phe1446=
ENST00000684010.1:n.4652T>C
ENST00000684014.1:n.629T>C
ENST00000684157.1:n.5642T>C
ENST00000684253.1:n.4560T>C
ENST00000684288.1:c.*2614T>C	ENSP00000507143.1:n.*2614T>C
ENST00000684313.1:n.4089T>C
ENST00000684332.1:n.4730T>C
ENST00000684371.1:n.4763T>C
ENST00000684404.1:n.5685T>C
ENST00000684442.1:n.4881T>C
ENST00000684555.1:c.*2654T>C	ENSP00000507705.1:n.*2654T>C
ENST00000684571.1:c.4283T>C	ENSP00000506935.1:p.Phe1428Ser
ENST00000684593.1:c.*4147T>C	ENSP00000507005.1:n.*4147T>C
ENST00000684711.1:c.*2838T>C	ENSP00000506841.1:n.*2838T>C
ENST00000302539.9:c.4445T>C	ENSP00000303960.4:p.Phe1482Ser
ENST00000389817.8:c.4442T>C MANE Select	ENSP00000374467.4:p.Phe1481Ser
ENST00000642271.1:c.4439T>C	ENSP00000493749.1:p.Phe1480Ser
ENST00000642579.1:c.2496T>C
ENST00000642611.1:n.5660T>C
ENST00000642902.1:c.4224T>C
ENST00000643260.1:c.4442T>C	ENSP00000494450.1:p.Phe1481Ser
ENST00000643562.1:c.*2564T>C	ENSP00000496124.1:n.*2564T>C
ENST00000643925.1:c.3082T>C
ENST00000644057.1:n.601T>C
ENST00000644484.1:c.*3828T>C	ENSP00000493558.1:n.*3828T>C
ENST00000644675.1:c.*2614T>C	ENSP00000494567.1:n.*2614T>C
ENST00000644757.1:c.*3203-1389T>C	ENSP00000495085.1:n.*3203-1389T>C
ENST00000644772.1:c.4508T>C	ENSP00000494321.1:p.Phe1503Ser
ENST00000645004.1:n.2135T>C
ENST00000645076.1:c.3537T>C
ENST00000645417.1:c.1630T>C
ENST00000645744.1:c.*4127T>C	ENSP00000494564.1:n.*4127T>C
ENST00000645760.1:c.4863T>C
ENST00000645884.1:c.*1725T>C	ENSP00000495516.1:n.*1725T>C
ENST00000646003.1:c.*2464T>C	ENSP00000495259.1:n.*2464T>C
ENST00000646207.1:c.*3279T>C	ENSP00000495025.1:n.*3279T>C
ENST00000646276.1:c.*3846T>C	ENSP00000496070.1:n.*3846T>C
ENST00000646592.1:c.3748T>C
ENST00000646902.1:c.4409T>C	ENSP00000494101.1:p.Phe1470Ser
ENST00000646993.1:c.*2880T>C	ENSP00000493720.1:n.*2880T>C
ENST00000647013.1:c.4448T>C	ENSP00000496741.1:n.4448T>C
ENST00000647015.1:c.4193T>C	ENSP00000495389.1:p.Phe1398Ser
ENST00000647086.1:c.*4028T>C	ENSP00000493677.1:n.*4028T>C
ENST00000647158.1:c.*2729T>C	ENSP00000495744.1:n.*2729T>C
ENST00000302539.8:c.4445T>C	ENSP00000303960.4:p.Phe1482Ser
ENST00000389817.7:c.4442T>C	ENSP00000374467.3:p.Phe1481Ser
ENST00000525022.1:n.337T>C
ENST00000526037.5:n.202T>C
ENST00000526168.5:c.230T>C
ENST00000531642.5:c.473T>C
NM_000352.4:c.4442T>C	NP_000343.2:p.Phe1481Ser
NM_001287174.1:c.4445T>C	NP_001274103.1:p.Phe1482Ser
XM_011520331.1:c.4442T>C	XP_011518633.1:p.Phe1481Ser
XM_011520332.1:c.4341T>C	XP_011518634.1:p.Phe1447=
XM_011520333.1:c.2942T>C	XP_011518635.1:p.Phe981Ser
XR_930890.1:n.4404T>C
NM_001351295.1:c.4508T>C	NP_001338224.1:p.Phe1503Ser
NM_001351296.1:c.4442T>C	NP_001338225.1:p.Phe1481Ser
NM_001351297.1:c.4439T>C	NP_001338226.1:p.Phe1480Ser
NR_147094.1:n.4737T>C
XM_017018197.2:c.4511T>C	XP_016873686.1:p.Phe1504Ser
XM_017018199.1:c.4508T>C	XP_016873688.1:p.Phe1503Ser
XM_017018201.2:c.4407T>C	XP_016873690.1:p.Phe1469=
XM_017018202.1:c.3008T>C	XP_016873691.1:p.Phe1003Ser
XM_017018204.1:c.2399T>C	XP_016873693.1:p.Phe800Ser
XM_024448668.1:c.2810T>C	XP_024304436.1:p.Phe937Ser
XR_001747945.2:n.4479T>C
XR_001747946.2:n.4410T>C
XR_002957189.1:n.6193T>C
NM_000352.6:c.4442T>C MANE Select	NP_000343.2:p.Phe1481Ser
NM_001287174.2:c.4445T>C	NP_001274103.1:p.Phe1482Ser
NM_001351295.2:c.4508T>C	NP_001338224.1:p.Phe1503Ser
NM_001351296.2:c.4442T>C	NP_001338225.1:p.Phe1481Ser
NM_001351297.2:c.4439T>C	NP_001338226.1:p.Phe1480Ser
NR_147094.2:n.4737T>C
NM_001287174.3:c.4445T>C	NP_001274103.1:p.Phe1482Ser