Canonical Allele Identifier: CA379788220

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417447T>A (hg19) ; chr11:g.17395900T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395900T>A , CM000673.2:g.17395900T>A	GRCh38
NC_000011.9:g.17417447T>A , CM000673.1:g.17417447T>A	GRCh37
NC_000011.8:g.17374023T>A	NCBI36
NG_008867.1:g.86003A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3751A>T
ENST00000528374.2:c.741A>T
ENST00000529967.6:n.2489A>T
ENST00000532220.2:n.3383A>T
ENST00000642611.2:n.5350A>T
ENST00000644057.2:n.593A>T
ENST00000645004.2:n.1649A>T
ENST00000682051.1:n.4312A>T
ENST00000682110.1:n.4365A>T
ENST00000682140.1:c.4016A>T	ENSP00000507829.1:p.Glu1339Val
ENST00000682185.1:n.5455A>T
ENST00000682204.1:c.*2288A>T	ENSP00000507094.1:n.*2288A>T
ENST00000682215.1:n.4732A>T
ENST00000682288.1:c.*2581A>T	ENSP00000507506.1:n.*2581A>T
ENST00000682442.1:n.4585A>T
ENST00000682528.1:n.4442A>T
ENST00000682673.1:n.4309A>T
ENST00000682805.1:n.4770A>T
ENST00000682965.1:c.*572A>T	ENSP00000508229.1:n.*572A>T
ENST00000683093.1:n.5449A>T
ENST00000683136.1:c.4033A>T	ENSP00000507768.1:p.Lys1345Ter
ENST00000683153.1:n.4407A>T
ENST00000683365.1:n.4467A>T
ENST00000683377.1:n.4365A>T
ENST00000683456.1:c.*1287A>T	ENSP00000508318.1:n.*1287A>T
ENST00000683522.1:n.4365A>T
ENST00000683562.1:c.*2319A>T	ENSP00000508265.1:n.*2319A>T
ENST00000683693.1:n.5797A>T
ENST00000683725.1:c.4150A>T	ENSP00000507496.1:p.Lys1384Ter
ENST00000684010.1:n.4360A>T
ENST00000684157.1:n.5350A>T
ENST00000684253.1:n.4268A>T
ENST00000684288.1:c.*2322A>T	ENSP00000507143.1:n.*2322A>T
ENST00000684313.1:n.3797A>T
ENST00000684332.1:n.4438A>T
ENST00000684371.1:n.4471A>T
ENST00000684404.1:n.5393A>T
ENST00000684442.1:n.4589A>T
ENST00000684555.1:c.*2362A>T	ENSP00000507705.1:n.*2362A>T
ENST00000684571.1:c.3991A>T	ENSP00000506935.1:p.Lys1331Ter
ENST00000684593.1:c.*3855A>T	ENSP00000507005.1:n.*3855A>T
ENST00000684711.1:c.*2546A>T	ENSP00000506841.1:n.*2546A>T
ENST00000302539.9:c.4153A>T	ENSP00000303960.4:p.Lys1385Ter
ENST00000389817.8:c.4150A>T MANE Select	ENSP00000374467.4:p.Lys1384Ter
ENST00000642271.1:c.4147A>T	ENSP00000493749.1:p.Lys1383Ter
ENST00000642579.1:c.2204A>T
ENST00000642611.1:n.5235A>T
ENST00000642902.1:c.3932A>T
ENST00000643260.1:c.4150A>T	ENSP00000494450.1:p.Lys1384Ter
ENST00000643562.1:c.*2272A>T	ENSP00000496124.1:n.*2272A>T
ENST00000643925.1:c.2790A>T
ENST00000644057.1:n.227A>T
ENST00000644484.1:c.*3536A>T	ENSP00000493558.1:n.*3536A>T
ENST00000644675.1:c.*2322A>T	ENSP00000494567.1:n.*2322A>T
ENST00000644757.1:c.*3202+364A>T	ENSP00000495085.1:n.*3202+364A>T
ENST00000644772.1:c.4216A>T	ENSP00000494321.1:p.Lys1406Ter
ENST00000645004.1:n.1843A>T
ENST00000645076.1:c.3349A>T
ENST00000645417.1:c.1338A>T
ENST00000645744.1:c.*3915A>T	ENSP00000494564.1:n.*3915A>T
ENST00000645760.1:c.4571A>T
ENST00000645884.1:c.*1433A>T	ENSP00000495516.1:n.*1433A>T
ENST00000646003.1:c.*2252A>T	ENSP00000495259.1:n.*2252A>T
ENST00000646207.1:c.*2987A>T	ENSP00000495025.1:n.*2987A>T
ENST00000646276.1:c.*3554A>T	ENSP00000496070.1:n.*3554A>T
ENST00000646592.1:c.3456A>T
ENST00000646902.1:c.4117A>T	ENSP00000494101.1:p.Lys1373Ter
ENST00000646993.1:c.*2692A>T	ENSP00000493720.1:n.*2692A>T
ENST00000647013.1:c.4156A>T	ENSP00000496741.1:n.4156A>T
ENST00000647015.1:c.3901A>T	ENSP00000495389.1:p.Lys1301Ter
ENST00000647086.1:c.*3736A>T	ENSP00000493677.1:n.*3736A>T
ENST00000647158.1:c.*2437A>T	ENSP00000495744.1:n.*2437A>T
ENST00000302539.8:c.4153A>T	ENSP00000303960.4:p.Lys1385Ter
ENST00000389817.7:c.4150A>T	ENSP00000374467.3:p.Lys1384Ter
ENST00000525022.1:n.16A>T
ENST00000526168.5:c.18A>T
NM_000352.4:c.4150A>T	NP_000343.2:p.Lys1384Ter
NM_001287174.1:c.4153A>T	NP_001274103.1:p.Lys1385Ter
XM_011520331.1:c.4150A>T	XP_011518633.1:p.Lys1384Ter
XM_011520332.1:c.4153A>T	XP_011518634.1:p.Lys1385Ter
XM_011520333.1:c.2650A>T	XP_011518635.1:p.Lys884Ter
XR_930890.1:n.4216A>T
NM_001351295.1:c.4216A>T	NP_001338224.1:p.Lys1406Ter
NM_001351296.1:c.4150A>T	NP_001338225.1:p.Lys1384Ter
NM_001351297.1:c.4147A>T	NP_001338226.1:p.Lys1383Ter
NR_147094.1:n.4445A>T
XM_017018197.2:c.4219A>T	XP_016873686.1:p.Lys1407Ter
XM_017018199.1:c.4216A>T	XP_016873688.1:p.Lys1406Ter
XM_017018201.2:c.4219A>T	XP_016873690.1:p.Lys1407Ter
XM_017018202.1:c.2716A>T	XP_016873691.1:p.Lys906Ter
XM_017018204.1:c.2107A>T	XP_016873693.1:p.Lys703Ter
XM_024448668.1:c.2518A>T	XP_024304436.1:p.Lys840Ter
XR_001747945.2:n.4291A>T
XR_001747946.2:n.4222A>T
XR_002957189.1:n.5872A>T
NM_000352.6:c.4150A>T MANE Select	NP_000343.2:p.Lys1384Ter
NM_001287174.2:c.4153A>T	NP_001274103.1:p.Lys1385Ter
NM_001351295.2:c.4216A>T	NP_001338224.1:p.Lys1406Ter
NM_001351296.2:c.4150A>T	NP_001338225.1:p.Lys1384Ter
NM_001351297.2:c.4147A>T	NP_001338226.1:p.Lys1383Ter
NR_147094.2:n.4445A>T
NM_001287174.3:c.4153A>T	NP_001274103.1:p.Lys1385Ter