Canonical Allele Identifier: CA379783519

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415913C>A (hg19) ; chr11:g.17394366C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394366C>A , CM000673.2:g.17394366C>A	GRCh38
NC_000011.9:g.17415913C>A , CM000673.1:g.17415913C>A	GRCh37
NC_000011.8:g.17372489C>A	NCBI36
NG_008867.1:g.87537G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4046G>T
ENST00000526037.6:n.380G>T
ENST00000528374.2:c.1036G>T
ENST00000529967.6:n.2784G>T
ENST00000532220.2:n.3678G>T
ENST00000642611.2:n.5778G>T
ENST00000644057.2:n.1021G>T
ENST00000645004.2:n.1944G>T
ENST00000682051.1:n.4607G>T
ENST00000682110.1:n.4660G>T
ENST00000682140.1:c.*231G>T	ENSP00000507829.1:n.*231G>T
ENST00000682185.1:n.5750G>T
ENST00000682204.1:c.*2583G>T	ENSP00000507094.1:n.*2583G>T
ENST00000682215.1:n.5027G>T
ENST00000682288.1:c.*2876G>T	ENSP00000507506.1:n.*2876G>T
ENST00000682442.1:n.4880G>T
ENST00000682528.1:n.4737G>T
ENST00000682673.1:n.4604G>T
ENST00000682805.1:n.5065G>T
ENST00000682965.1:c.*867G>T	ENSP00000508229.1:n.*867G>T
ENST00000683093.1:n.5640G>T
ENST00000683136.1:c.4328G>T	ENSP00000507768.1:p.Ser1443Ile
ENST00000683153.1:n.4702G>T
ENST00000683365.1:n.4762G>T
ENST00000683377.1:n.4556G>T
ENST00000683456.1:c.*1582G>T	ENSP00000508318.1:n.*1582G>T
ENST00000683522.1:n.4742G>T
ENST00000683562.1:c.*2510G>T	ENSP00000508265.1:n.*2510G>T
ENST00000683693.1:n.6121G>T
ENST00000683725.1:c.4341G>T	ENSP00000507496.1:p.Gln1447His
ENST00000684010.1:n.4655G>T
ENST00000684014.1:n.632G>T
ENST00000684157.1:n.5645G>T
ENST00000684253.1:n.4563G>T
ENST00000684288.1:c.*2617G>T	ENSP00000507143.1:n.*2617G>T
ENST00000684313.1:n.4092G>T
ENST00000684332.1:n.4733G>T
ENST00000684371.1:n.4766G>T
ENST00000684404.1:n.5688G>T
ENST00000684442.1:n.4884G>T
ENST00000684555.1:c.*2657G>T	ENSP00000507705.1:n.*2657G>T
ENST00000684571.1:c.4286G>T	ENSP00000506935.1:p.Ser1429Ile
ENST00000684593.1:c.*4150G>T	ENSP00000507005.1:n.*4150G>T
ENST00000684711.1:c.*2841G>T	ENSP00000506841.1:n.*2841G>T
ENST00000302539.9:c.4448G>T	ENSP00000303960.4:p.Ser1483Ile
ENST00000389817.8:c.4445G>T MANE Select	ENSP00000374467.4:p.Ser1482Ile
ENST00000642271.1:c.4442G>T	ENSP00000493749.1:p.Ser1481Ile
ENST00000642579.1:c.2499G>T
ENST00000642611.1:n.5663G>T
ENST00000642902.1:c.4227G>T
ENST00000643260.1:c.4445G>T	ENSP00000494450.1:p.Ser1482Ile
ENST00000643562.1:c.*2567G>T	ENSP00000496124.1:n.*2567G>T
ENST00000643925.1:c.3085G>T
ENST00000644057.1:n.604G>T
ENST00000644484.1:c.*3831G>T	ENSP00000493558.1:n.*3831G>T
ENST00000644675.1:c.*2617G>T	ENSP00000494567.1:n.*2617G>T
ENST00000644757.1:c.*3203-1386G>T	ENSP00000495085.1:n.*3203-1386G>T
ENST00000644772.1:c.4511G>T	ENSP00000494321.1:p.Ser1504Ile
ENST00000645004.1:n.2138G>T
ENST00000645076.1:c.3540G>T
ENST00000645417.1:c.1633G>T
ENST00000645744.1:c.*4130G>T	ENSP00000494564.1:n.*4130G>T
ENST00000645760.1:c.4866G>T
ENST00000645884.1:c.*1728G>T	ENSP00000495516.1:n.*1728G>T
ENST00000646003.1:c.*2467G>T	ENSP00000495259.1:n.*2467G>T
ENST00000646207.1:c.*3282G>T	ENSP00000495025.1:n.*3282G>T
ENST00000646276.1:c.*3849G>T	ENSP00000496070.1:n.*3849G>T
ENST00000646592.1:c.3751G>T
ENST00000646902.1:c.4412G>T	ENSP00000494101.1:p.Ser1471Ile
ENST00000646993.1:c.*2883G>T	ENSP00000493720.1:n.*2883G>T
ENST00000647013.1:c.4451G>T	ENSP00000496741.1:n.4451G>T
ENST00000647015.1:c.4196G>T	ENSP00000495389.1:p.Ser1399Ile
ENST00000647086.1:c.*4031G>T	ENSP00000493677.1:n.*4031G>T
ENST00000647158.1:c.*2732G>T	ENSP00000495744.1:n.*2732G>T
ENST00000302539.8:c.4448G>T	ENSP00000303960.4:p.Ser1483Ile
ENST00000389817.7:c.4445G>T	ENSP00000374467.3:p.Ser1482Ile
ENST00000525022.1:n.340G>T
ENST00000526037.5:n.205G>T
ENST00000526168.5:c.233G>T
ENST00000531642.5:c.476G>T
NM_000352.4:c.4445G>T	NP_000343.2:p.Ser1482Ile
NM_001287174.1:c.4448G>T	NP_001274103.1:p.Ser1483Ile
XM_011520331.1:c.4445G>T	XP_011518633.1:p.Ser1482Ile
XM_011520332.1:c.4344G>T	XP_011518634.1:p.Gln1448His
XM_011520333.1:c.2945G>T	XP_011518635.1:p.Ser982Ile
XR_930890.1:n.4407G>T
NM_001351295.1:c.4511G>T	NP_001338224.1:p.Ser1504Ile
NM_001351296.1:c.4445G>T	NP_001338225.1:p.Ser1482Ile
NM_001351297.1:c.4442G>T	NP_001338226.1:p.Ser1481Ile
NR_147094.1:n.4740G>T
XM_017018197.2:c.4514G>T	XP_016873686.1:p.Ser1505Ile
XM_017018199.1:c.4511G>T	XP_016873688.1:p.Ser1504Ile
XM_017018201.2:c.4410G>T	XP_016873690.1:p.Gln1470His
XM_017018202.1:c.3011G>T	XP_016873691.1:p.Ser1004Ile
XM_017018204.1:c.2402G>T	XP_016873693.1:p.Ser801Ile
XM_024448668.1:c.2813G>T	XP_024304436.1:p.Ser938Ile
XR_001747945.2:n.4482G>T
XR_001747946.2:n.4413G>T
XR_002957189.1:n.6196G>T
NM_000352.6:c.4445G>T MANE Select	NP_000343.2:p.Ser1482Ile
NM_001287174.2:c.4448G>T	NP_001274103.1:p.Ser1483Ile
NM_001351295.2:c.4511G>T	NP_001338224.1:p.Ser1504Ile
NM_001351296.2:c.4445G>T	NP_001338225.1:p.Ser1482Ile
NM_001351297.2:c.4442G>T	NP_001338226.1:p.Ser1481Ile
NR_147094.2:n.4740G>T
NM_001287174.3:c.4448G>T	NP_001274103.1:p.Ser1483Ile