Canonical Allele Identifier: CA379791123

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418572T>A (hg19) ; chr11:g.17397025T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397025T>A , CM000673.2:g.17397025T>A	GRCh38
NC_000011.9:g.17418572T>A , CM000673.1:g.17418572T>A	GRCh37
NC_000011.8:g.17375148T>A	NCBI36
NG_008867.1:g.84878A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3611A>T
ENST00000528374.2:c.601A>T
ENST00000529967.6:n.2349A>T
ENST00000532220.2:n.2258A>T
ENST00000642611.2:n.4225A>T
ENST00000644057.2:n.453A>T
ENST00000645004.2:n.1509A>T
ENST00000682051.1:n.4172A>T
ENST00000682110.1:n.4225A>T
ENST00000682140.1:c.3985+168A>T	ENSP00000507829.1:n.3985+168A>T
ENST00000682185.1:n.5315A>T
ENST00000682204.1:c.*2148A>T	ENSP00000507094.1:n.*2148A>T
ENST00000682215.1:n.4592A>T
ENST00000682288.1:c.*2441A>T	ENSP00000507506.1:n.*2441A>T
ENST00000682442.1:n.4445A>T
ENST00000682528.1:n.4302A>T
ENST00000682673.1:n.4169A>T
ENST00000682805.1:n.4592A>T
ENST00000682965.1:c.*432A>T	ENSP00000508229.1:n.*432A>T
ENST00000683093.1:n.4324A>T
ENST00000683136.1:c.3893A>T	ENSP00000507768.1:p.Asn1298Ile
ENST00000683153.1:n.4267A>T
ENST00000683365.1:n.4327A>T
ENST00000683377.1:n.4225A>T
ENST00000683456.1:c.*1147A>T	ENSP00000508318.1:n.*1147A>T
ENST00000683522.1:n.4225A>T
ENST00000683562.1:c.*2179A>T	ENSP00000508265.1:n.*2179A>T
ENST00000683693.1:n.4672A>T
ENST00000683725.1:c.4010A>T	ENSP00000507496.1:p.Asn1337Ile
ENST00000684010.1:n.4220A>T
ENST00000684157.1:n.4225A>T
ENST00000684253.1:n.4128A>T
ENST00000684288.1:c.*2182A>T	ENSP00000507143.1:n.*2182A>T
ENST00000684313.1:n.3657A>T
ENST00000684332.1:n.4298A>T
ENST00000684371.1:n.4331A>T
ENST00000684404.1:n.4268A>T
ENST00000684442.1:n.4449A>T
ENST00000684555.1:c.*2222A>T	ENSP00000507705.1:n.*2222A>T
ENST00000684571.1:c.3851A>T	ENSP00000506935.1:p.Asn1284Ile
ENST00000684593.1:c.*3715A>T	ENSP00000507005.1:n.*3715A>T
ENST00000684711.1:c.*2406A>T	ENSP00000506841.1:n.*2406A>T
ENST00000302539.9:c.4013A>T	ENSP00000303960.4:p.Asn1338Ile
ENST00000389817.8:c.4010A>T MANE Select	ENSP00000374467.4:p.Asn1337Ile
ENST00000642271.1:c.4007A>T	ENSP00000493749.1:p.Asn1336Ile
ENST00000642579.1:c.2073-9A>T
ENST00000642611.1:n.4110A>T
ENST00000642902.1:c.3792A>T
ENST00000643260.1:c.4010A>T	ENSP00000494450.1:p.Asn1337Ile
ENST00000643562.1:c.*2132A>T	ENSP00000496124.1:n.*2132A>T
ENST00000643925.1:c.2650A>T
ENST00000644057.1:n.87A>T
ENST00000644484.1:c.*2411A>T	ENSP00000493558.1:n.*2411A>T
ENST00000644675.1:c.*2182A>T	ENSP00000494567.1:n.*2182A>T
ENST00000644757.1:c.*2441A>T	ENSP00000495085.1:n.*2441A>T
ENST00000644772.1:c.4076A>T	ENSP00000494321.1:p.Asn1359Ile
ENST00000645004.1:n.1665A>T
ENST00000645076.1:c.3209A>T
ENST00000645417.1:c.1198A>T
ENST00000645744.1:c.*2790A>T	ENSP00000494564.1:n.*2790A>T
ENST00000645760.1:c.4431A>T
ENST00000645884.1:c.*1293A>T	ENSP00000495516.1:n.*1293A>T
ENST00000646003.1:c.*2112A>T	ENSP00000495259.1:n.*2112A>T
ENST00000646207.1:c.*2847A>T	ENSP00000495025.1:n.*2847A>T
ENST00000646276.1:c.*2429A>T	ENSP00000496070.1:n.*2429A>T
ENST00000646592.1:c.3316A>T
ENST00000646902.1:c.3986-9A>T	ENSP00000494101.1:n.3986-9A>T
ENST00000646993.1:c.*2552A>T	ENSP00000493720.1:n.*2552A>T
ENST00000647013.1:c.4016A>T	ENSP00000496741.1:n.4016A>T
ENST00000647015.1:c.3761A>T	ENSP00000495389.1:p.Asn1254Ile
ENST00000647086.1:c.*3605-9A>T	ENSP00000493677.1:n.*3605-9A>T
ENST00000647158.1:c.*2297A>T	ENSP00000495744.1:n.*2297A>T
ENST00000302539.8:c.4013A>T	ENSP00000303960.4:p.Asn1338Ile
ENST00000389817.7:c.4010A>T	ENSP00000374467.3:p.Asn1337Ile
ENST00000527905.5:c.*1032A>T	ENSP00000431653.1:n.*1032A>T
ENST00000528374.1:c.492A>T
ENST00000531137.1:n.575A>T
ENST00000531891.1:c.357-9A>T
ENST00000532220.1:n.484A>T
NM_000352.4:c.4010A>T	NP_000343.2:p.Asn1337Ile
NM_001287174.1:c.4013A>T	NP_001274103.1:p.Asn1338Ile
XM_011520331.1:c.4010A>T	XP_011518633.1:p.Asn1337Ile
XM_011520332.1:c.4013A>T	XP_011518634.1:p.Asn1338Ile
XM_011520333.1:c.2510A>T	XP_011518635.1:p.Asn837Ile
XR_930890.1:n.4076A>T
NM_001351295.1:c.4076A>T	NP_001338224.1:p.Asn1359Ile
NM_001351296.1:c.4010A>T	NP_001338225.1:p.Asn1337Ile
NM_001351297.1:c.4007A>T	NP_001338226.1:p.Asn1336Ile
NR_147094.1:n.4305A>T
XM_017018197.2:c.4079A>T	XP_016873686.1:p.Asn1360Ile
XM_017018199.1:c.4076A>T	XP_016873688.1:p.Asn1359Ile
XM_017018201.2:c.4079A>T	XP_016873690.1:p.Asn1360Ile
XM_017018202.1:c.2576A>T	XP_016873691.1:p.Asn859Ile
XM_017018204.1:c.1967A>T	XP_016873693.1:p.Asn656Ile
XM_024448668.1:c.2378A>T	XP_024304436.1:p.Asn793Ile
XR_001747945.2:n.4151A>T
XR_001747946.2:n.4082A>T
XR_002957189.1:n.4747A>T
NM_000352.6:c.4010A>T MANE Select	NP_000343.2:p.Asn1337Ile
NM_001287174.2:c.4013A>T	NP_001274103.1:p.Asn1338Ile
NM_001351295.2:c.4076A>T	NP_001338224.1:p.Asn1359Ile
NM_001351296.2:c.4010A>T	NP_001338225.1:p.Asn1337Ile
NM_001351297.2:c.4007A>T	NP_001338226.1:p.Asn1336Ile
NR_147094.2:n.4305A>T
NM_001287174.3:c.4013A>T	NP_001274103.1:p.Asn1338Ile