Canonical Allele Identifier: CA379783577

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415917A>G (hg19) ; chr11:g.17394370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394370A>G , CM000673.2:g.17394370A>G	GRCh38
NC_000011.9:g.17415917A>G , CM000673.1:g.17415917A>G	GRCh37
NC_000011.8:g.17372493A>G	NCBI36
NG_008867.1:g.87533T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4042T>C
ENST00000526037.6:n.376T>C
ENST00000528374.2:c.1032T>C
ENST00000529967.6:n.2780T>C
ENST00000532220.2:n.3674T>C
ENST00000642611.2:n.5774T>C
ENST00000644057.2:n.1017T>C
ENST00000645004.2:n.1940T>C
ENST00000682051.1:n.4603T>C
ENST00000682110.1:n.4656T>C
ENST00000682140.1:c.*227T>C	ENSP00000507829.1:n.*227T>C
ENST00000682185.1:n.5746T>C
ENST00000682204.1:c.*2579T>C	ENSP00000507094.1:n.*2579T>C
ENST00000682215.1:n.5023T>C
ENST00000682288.1:c.*2872T>C	ENSP00000507506.1:n.*2872T>C
ENST00000682442.1:n.4876T>C
ENST00000682528.1:n.4733T>C
ENST00000682673.1:n.4600T>C
ENST00000682805.1:n.5061T>C
ENST00000682965.1:c.*863T>C	ENSP00000508229.1:n.*863T>C
ENST00000683093.1:n.5636T>C
ENST00000683136.1:c.4324T>C	ENSP00000507768.1:p.Phe1442Leu
ENST00000683153.1:n.4698T>C
ENST00000683365.1:n.4758T>C
ENST00000683377.1:n.4552T>C
ENST00000683456.1:c.*1578T>C	ENSP00000508318.1:n.*1578T>C
ENST00000683522.1:n.4738T>C
ENST00000683562.1:c.*2506T>C	ENSP00000508265.1:n.*2506T>C
ENST00000683693.1:n.6117T>C
ENST00000683725.1:c.4337T>C	ENSP00000507496.1:p.Phe1446Ser
ENST00000684010.1:n.4651T>C
ENST00000684014.1:n.628T>C
ENST00000684157.1:n.5641T>C
ENST00000684253.1:n.4559T>C
ENST00000684288.1:c.*2613T>C	ENSP00000507143.1:n.*2613T>C
ENST00000684313.1:n.4088T>C
ENST00000684332.1:n.4729T>C
ENST00000684371.1:n.4762T>C
ENST00000684404.1:n.5684T>C
ENST00000684442.1:n.4880T>C
ENST00000684555.1:c.*2653T>C	ENSP00000507705.1:n.*2653T>C
ENST00000684571.1:c.4282T>C	ENSP00000506935.1:p.Phe1428Leu
ENST00000684593.1:c.*4146T>C	ENSP00000507005.1:n.*4146T>C
ENST00000684711.1:c.*2837T>C	ENSP00000506841.1:n.*2837T>C
ENST00000302539.9:c.4444T>C	ENSP00000303960.4:p.Phe1482Leu
ENST00000389817.8:c.4441T>C MANE Select	ENSP00000374467.4:p.Phe1481Leu
ENST00000642271.1:c.4438T>C	ENSP00000493749.1:p.Phe1480Leu
ENST00000642579.1:c.2495T>C
ENST00000642611.1:n.5659T>C
ENST00000642902.1:c.4223T>C
ENST00000643260.1:c.4441T>C	ENSP00000494450.1:p.Phe1481Leu
ENST00000643562.1:c.*2563T>C	ENSP00000496124.1:n.*2563T>C
ENST00000643925.1:c.3081T>C
ENST00000644057.1:n.600T>C
ENST00000644484.1:c.*3827T>C	ENSP00000493558.1:n.*3827T>C
ENST00000644675.1:c.*2613T>C	ENSP00000494567.1:n.*2613T>C
ENST00000644757.1:c.*3203-1390T>C	ENSP00000495085.1:n.*3203-1390T>C
ENST00000644772.1:c.4507T>C	ENSP00000494321.1:p.Phe1503Leu
ENST00000645004.1:n.2134T>C
ENST00000645076.1:c.3536T>C
ENST00000645417.1:c.1629T>C
ENST00000645744.1:c.*4126T>C	ENSP00000494564.1:n.*4126T>C
ENST00000645760.1:c.4862T>C
ENST00000645884.1:c.*1724T>C	ENSP00000495516.1:n.*1724T>C
ENST00000646003.1:c.*2463T>C	ENSP00000495259.1:n.*2463T>C
ENST00000646207.1:c.*3278T>C	ENSP00000495025.1:n.*3278T>C
ENST00000646276.1:c.*3845T>C	ENSP00000496070.1:n.*3845T>C
ENST00000646592.1:c.3747T>C
ENST00000646902.1:c.4408T>C	ENSP00000494101.1:p.Phe1470Leu
ENST00000646993.1:c.*2879T>C	ENSP00000493720.1:n.*2879T>C
ENST00000647013.1:c.4447T>C	ENSP00000496741.1:n.4447T>C
ENST00000647015.1:c.4192T>C	ENSP00000495389.1:p.Phe1398Leu
ENST00000647086.1:c.*4027T>C	ENSP00000493677.1:n.*4027T>C
ENST00000647158.1:c.*2728T>C	ENSP00000495744.1:n.*2728T>C
ENST00000302539.8:c.4444T>C	ENSP00000303960.4:p.Phe1482Leu
ENST00000389817.7:c.4441T>C	ENSP00000374467.3:p.Phe1481Leu
ENST00000525022.1:n.336T>C
ENST00000526037.5:n.201T>C
ENST00000526168.5:c.229T>C
ENST00000531642.5:c.472T>C
NM_000352.4:c.4441T>C	NP_000343.2:p.Phe1481Leu
NM_001287174.1:c.4444T>C	NP_001274103.1:p.Phe1482Leu
XM_011520331.1:c.4441T>C	XP_011518633.1:p.Phe1481Leu
XM_011520332.1:c.4340T>C	XP_011518634.1:p.Phe1447Ser
XM_011520333.1:c.2941T>C	XP_011518635.1:p.Phe981Leu
XR_930890.1:n.4403T>C
NM_001351295.1:c.4507T>C	NP_001338224.1:p.Phe1503Leu
NM_001351296.1:c.4441T>C	NP_001338225.1:p.Phe1481Leu
NM_001351297.1:c.4438T>C	NP_001338226.1:p.Phe1480Leu
NR_147094.1:n.4736T>C
XM_017018197.2:c.4510T>C	XP_016873686.1:p.Phe1504Leu
XM_017018199.1:c.4507T>C	XP_016873688.1:p.Phe1503Leu
XM_017018201.2:c.4406T>C	XP_016873690.1:p.Phe1469Ser
XM_017018202.1:c.3007T>C	XP_016873691.1:p.Phe1003Leu
XM_017018204.1:c.2398T>C	XP_016873693.1:p.Phe800Leu
XM_024448668.1:c.2809T>C	XP_024304436.1:p.Phe937Leu
XR_001747945.2:n.4478T>C
XR_001747946.2:n.4409T>C
XR_002957189.1:n.6192T>C
NM_000352.6:c.4441T>C MANE Select	NP_000343.2:p.Phe1481Leu
NM_001287174.2:c.4444T>C	NP_001274103.1:p.Phe1482Leu
NM_001351295.2:c.4507T>C	NP_001338224.1:p.Phe1503Leu
NM_001351296.2:c.4441T>C	NP_001338225.1:p.Phe1481Leu
NM_001351297.2:c.4438T>C	NP_001338226.1:p.Phe1480Leu
NR_147094.2:n.4736T>C
NM_001287174.3:c.4444T>C	NP_001274103.1:p.Phe1482Leu