Canonical Allele Identifier: CA379782078

Gene: ABCC8

Linked Data

• dbSNP Id: rs1357992729
• gnomAD v2: 11-17415282-T-A
• MyVariant Identifiers: chr11:g.17415282T>A (hg19) ; chr11:g.17393735T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393735T>A , CM000673.2:g.17393735T>A	GRCh38
NC_000011.9:g.17415282T>A , CM000673.1:g.17415282T>A	GRCh37
NC_000011.8:g.17371858T>A	NCBI36
NG_008867.1:g.88168A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4171A>T
ENST00000526037.6:n.505A>T
ENST00000528374.2:c.1161A>T
ENST00000529967.6:n.2909A>T
ENST00000532220.2:n.3803A>T
ENST00000642611.2:n.5903A>T
ENST00000644057.2:n.1146A>T
ENST00000645004.2:n.2069A>T
ENST00000682051.1:n.4732A>T
ENST00000682110.1:n.4785A>T
ENST00000682140.1:c.*356A>T	ENSP00000507829.1:n.*356A>T
ENST00000682185.1:n.5875A>T
ENST00000682204.1:c.*2708A>T	ENSP00000507094.1:n.*2708A>T
ENST00000682215.1:n.5152A>T
ENST00000682288.1:c.*3001A>T	ENSP00000507506.1:n.*3001A>T
ENST00000682442.1:n.5005A>T
ENST00000682528.1:n.4862A>T
ENST00000682673.1:n.4729A>T
ENST00000682805.1:n.5190A>T
ENST00000682965.1:c.*992A>T	ENSP00000508229.1:n.*992A>T
ENST00000683093.1:n.5765A>T
ENST00000683136.1:c.4453A>T	ENSP00000507768.1:p.Met1485Leu
ENST00000683153.1:n.4827A>T
ENST00000683365.1:n.4887A>T
ENST00000683377.1:n.4681A>T
ENST00000683456.1:c.*1707A>T	ENSP00000508318.1:n.*1707A>T
ENST00000683522.1:n.4867A>T
ENST00000683562.1:c.*2635A>T	ENSP00000508265.1:n.*2635A>T
ENST00000683693.1:n.6246A>T
ENST00000683725.1:c.*35A>T	ENSP00000507496.1:n.*35A>T
ENST00000684010.1:n.4780A>T
ENST00000684014.1:n.757A>T
ENST00000684157.1:n.5770A>T
ENST00000684253.1:n.4688A>T
ENST00000684288.1:c.*2742A>T	ENSP00000507143.1:n.*2742A>T
ENST00000684313.1:n.4217A>T
ENST00000684332.1:n.4858A>T
ENST00000684371.1:n.4891A>T
ENST00000684404.1:n.5813A>T
ENST00000684442.1:n.5009A>T
ENST00000684555.1:c.*2782A>T	ENSP00000507705.1:n.*2782A>T
ENST00000684571.1:c.4411A>T	ENSP00000506935.1:p.Met1471Leu
ENST00000684593.1:c.*4275A>T	ENSP00000507005.1:n.*4275A>T
ENST00000684711.1:c.*2966A>T	ENSP00000506841.1:n.*2966A>T
ENST00000302539.9:c.4573A>T	ENSP00000303960.4:p.Met1525Leu
ENST00000389817.8:c.4570A>T MANE Select	ENSP00000374467.4:p.Met1524Leu
ENST00000642271.1:c.4567A>T	ENSP00000493749.1:p.Met1523Leu
ENST00000642579.1:c.2624A>T
ENST00000642611.1:n.5788A>T
ENST00000642902.1:c.4352A>T
ENST00000643260.1:c.4570A>T	ENSP00000494450.1:p.Met1524Leu
ENST00000643562.1:c.*2692A>T	ENSP00000496124.1:n.*2692A>T
ENST00000643925.1:c.3185+531A>T
ENST00000644057.1:n.729A>T
ENST00000644484.1:c.*3956A>T	ENSP00000493558.1:n.*3956A>T
ENST00000644675.1:c.*2742A>T	ENSP00000494567.1:n.*2742A>T
ENST00000644757.1:c.*3203-755A>T	ENSP00000495085.1:n.*3203-755A>T
ENST00000644772.1:c.4636A>T	ENSP00000494321.1:p.Met1546Leu
ENST00000645004.1:n.2263A>T
ENST00000645076.1:c.3665A>T
ENST00000645417.1:c.1758A>T
ENST00000645744.1:c.*4255A>T	ENSP00000494564.1:n.*4255A>T
ENST00000645760.1:c.4991A>T
ENST00000645884.1:c.*1853A>T	ENSP00000495516.1:n.*1853A>T
ENST00000646003.1:c.*2592A>T	ENSP00000495259.1:n.*2592A>T
ENST00000646207.1:c.*3407A>T	ENSP00000495025.1:n.*3407A>T
ENST00000646276.1:c.*3974A>T	ENSP00000496070.1:n.*3974A>T
ENST00000646592.1:c.3876A>T
ENST00000646902.1:c.4537A>T	ENSP00000494101.1:p.Met1513Leu
ENST00000646993.1:c.*3008A>T	ENSP00000493720.1:n.*3008A>T
ENST00000647015.1:c.4321A>T	ENSP00000495389.1:p.Met1441Leu
ENST00000647086.1:c.*4156A>T	ENSP00000493677.1:n.*4156A>T
ENST00000647158.1:c.*2857A>T	ENSP00000495744.1:n.*2857A>T
ENST00000302539.8:c.4573A>T	ENSP00000303960.4:p.Met1525Leu
ENST00000389817.7:c.4570A>T	ENSP00000374467.3:p.Met1524Leu
ENST00000525022.1:n.465A>T
ENST00000526037.5:n.330A>T
ENST00000526168.5:c.358A>T
ENST00000531642.5:c.601A>T
NM_000352.4:c.4570A>T	NP_000343.2:p.Met1524Leu
NM_001287174.1:c.4573A>T	NP_001274103.1:p.Met1525Leu
XM_011520331.1:c.4570A>T	XP_011518633.1:p.Met1524Leu
XM_011520333.1:c.3070A>T	XP_011518635.1:p.Met1024Leu
XR_930890.1:n.4532A>T
NM_001351295.1:c.4636A>T	NP_001338224.1:p.Met1546Leu
NM_001351296.1:c.4570A>T	NP_001338225.1:p.Met1524Leu
NM_001351297.1:c.4567A>T	NP_001338226.1:p.Met1523Leu
NR_147094.1:n.4865A>T
XM_017018197.2:c.4639A>T	XP_016873686.1:p.Met1547Leu
XM_017018199.1:c.4636A>T	XP_016873688.1:p.Met1546Leu
XM_017018202.1:c.3136A>T	XP_016873691.1:p.Met1046Leu
XM_017018204.1:c.2527A>T	XP_016873693.1:p.Met843Leu
XM_024448668.1:c.2938A>T	XP_024304436.1:p.Met980Leu
XR_001747945.2:n.4607A>T
XR_001747946.2:n.4538A>T
XR_002957189.1:n.6321A>T
NM_000352.6:c.4570A>T MANE Select	NP_000343.2:p.Met1524Leu
NM_001287174.2:c.4573A>T	NP_001274103.1:p.Met1525Leu
NM_001351295.2:c.4636A>T	NP_001338224.1:p.Met1546Leu
NM_001351296.2:c.4570A>T	NP_001338225.1:p.Met1524Leu
NM_001351297.2:c.4567A>T	NP_001338226.1:p.Met1523Leu
NR_147094.2:n.4865A>T
NM_001287174.3:c.4573A>T	NP_001274103.1:p.Met1525Leu