Canonical Allele Identifier: CA218407985

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2151109
• ClinVar RCV Id: RCV003067909
• dbSNP Id: rs975338030
• gnomAD v2: 11-17417236-C-T
• gnomAD v3: 11-17395689-C-T
• gnomAD v4: 11-17395689-C-T
• COSMIC: COSM4031814
• MyVariant Identifiers: chr11:g.17417236C>T (hg19) ; chr11:g.17395689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395689C>T , CM000673.2:g.17395689C>T	GRCh38
NC_000011.9:g.17417236C>T , CM000673.1:g.17417236C>T	GRCh37
NC_000011.8:g.17373812C>T	NCBI36
NG_008867.1:g.86214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3829G>A
ENST00000528374.2:c.819G>A
ENST00000529967.6:n.2567G>A
ENST00000532220.2:n.3461G>A
ENST00000642611.2:n.5561G>A
ENST00000644057.2:n.804G>A
ENST00000645004.2:n.1727G>A
ENST00000682051.1:n.4390G>A
ENST00000682110.1:n.4443G>A
ENST00000682140.1:c.*14G>A	ENSP00000507829.1:n.*14G>A
ENST00000682185.1:n.5533G>A
ENST00000682204.1:c.*2366G>A	ENSP00000507094.1:n.*2366G>A
ENST00000682215.1:n.4810G>A
ENST00000682288.1:c.*2659G>A	ENSP00000507506.1:n.*2659G>A
ENST00000682442.1:n.4663G>A
ENST00000682528.1:n.4520G>A
ENST00000682673.1:n.4387G>A
ENST00000682805.1:n.4848G>A
ENST00000682965.1:c.*650G>A	ENSP00000508229.1:n.*650G>A
ENST00000683093.1:n.5527G>A
ENST00000683136.1:c.4111G>A	ENSP00000507768.1:p.Ala1371Thr
ENST00000683153.1:n.4485G>A
ENST00000683365.1:n.4545G>A
ENST00000683377.1:n.4443G>A
ENST00000683456.1:c.*1365G>A	ENSP00000508318.1:n.*1365G>A
ENST00000683522.1:n.4443G>A
ENST00000683562.1:c.*2397G>A	ENSP00000508265.1:n.*2397G>A
ENST00000683693.1:n.6008G>A
ENST00000683725.1:c.4228G>A	ENSP00000507496.1:p.Ala1410Thr
ENST00000684010.1:n.4438G>A
ENST00000684157.1:n.5428G>A
ENST00000684253.1:n.4346G>A
ENST00000684288.1:c.*2400G>A	ENSP00000507143.1:n.*2400G>A
ENST00000684313.1:n.3875G>A
ENST00000684332.1:n.4516G>A
ENST00000684371.1:n.4549G>A
ENST00000684404.1:n.5471G>A
ENST00000684442.1:n.4667G>A
ENST00000684555.1:c.*2440G>A	ENSP00000507705.1:n.*2440G>A
ENST00000684571.1:c.4069G>A	ENSP00000506935.1:p.Ala1357Thr
ENST00000684593.1:c.*3933G>A	ENSP00000507005.1:n.*3933G>A
ENST00000684711.1:c.*2624G>A	ENSP00000506841.1:n.*2624G>A
ENST00000302539.9:c.4231G>A	ENSP00000303960.4:p.Ala1411Thr
ENST00000389817.8:c.4228G>A MANE Select	ENSP00000374467.4:p.Ala1410Thr
ENST00000642271.1:c.4225G>A	ENSP00000493749.1:p.Ala1409Thr
ENST00000642579.1:c.2282G>A
ENST00000642611.1:n.5446G>A
ENST00000642902.1:c.4010G>A
ENST00000643260.1:c.4228G>A	ENSP00000494450.1:p.Ala1410Thr
ENST00000643562.1:c.*2350G>A	ENSP00000496124.1:n.*2350G>A
ENST00000643925.1:c.2868G>A
ENST00000644057.1:n.305G>A
ENST00000644484.1:c.*3614G>A	ENSP00000493558.1:n.*3614G>A
ENST00000644675.1:c.*2400G>A	ENSP00000494567.1:n.*2400G>A
ENST00000644757.1:c.*3202+575G>A	ENSP00000495085.1:n.*3202+575G>A
ENST00000644772.1:c.4294G>A	ENSP00000494321.1:p.Ala1432Thr
ENST00000645004.1:n.1921G>A
ENST00000645076.1:c.3427G>A
ENST00000645417.1:c.1416G>A
ENST00000645744.1:c.*3964-51G>A	ENSP00000494564.1:n.*3964-51G>A
ENST00000645760.1:c.4649G>A
ENST00000645884.1:c.*1511G>A	ENSP00000495516.1:n.*1511G>A
ENST00000646003.1:c.*2301-51G>A	ENSP00000495259.1:n.*2301-51G>A
ENST00000646207.1:c.*3065G>A	ENSP00000495025.1:n.*3065G>A
ENST00000646276.1:c.*3632G>A	ENSP00000496070.1:n.*3632G>A
ENST00000646592.1:c.3534G>A
ENST00000646902.1:c.4195G>A	ENSP00000494101.1:p.Ala1399Thr
ENST00000646993.1:c.*2770G>A	ENSP00000493720.1:n.*2770G>A
ENST00000647013.1:c.4234G>A	ENSP00000496741.1:n.4234G>A
ENST00000647015.1:c.3979G>A	ENSP00000495389.1:p.Ala1327Thr
ENST00000647086.1:c.*3814G>A	ENSP00000493677.1:n.*3814G>A
ENST00000647158.1:c.*2515G>A	ENSP00000495744.1:n.*2515G>A
ENST00000302539.8:c.4231G>A	ENSP00000303960.4:p.Ala1411Thr
ENST00000389817.7:c.4228G>A	ENSP00000374467.3:p.Ala1410Thr
ENST00000525022.1:n.227G>A
ENST00000526037.5:n.92G>A
ENST00000526168.5:c.67-51G>A
ENST00000531642.5:c.64G>A
NM_000352.4:c.4228G>A	NP_000343.2:p.Ala1410Thr
NM_001287174.1:c.4231G>A	NP_001274103.1:p.Ala1411Thr
XM_011520331.1:c.4228G>A	XP_011518633.1:p.Ala1410Thr
XM_011520332.1:c.4231G>A	XP_011518634.1:p.Ala1411Thr
XM_011520333.1:c.2728G>A	XP_011518635.1:p.Ala910Thr
XR_930890.1:n.4294G>A
NM_001351295.1:c.4294G>A	NP_001338224.1:p.Ala1432Thr
NM_001351296.1:c.4228G>A	NP_001338225.1:p.Ala1410Thr
NM_001351297.1:c.4225G>A	NP_001338226.1:p.Ala1409Thr
NR_147094.1:n.4523G>A
XM_017018197.2:c.4297G>A	XP_016873686.1:p.Ala1433Thr
XM_017018199.1:c.4294G>A	XP_016873688.1:p.Ala1432Thr
XM_017018201.2:c.4297G>A	XP_016873690.1:p.Ala1433Thr
XM_017018202.1:c.2794G>A	XP_016873691.1:p.Ala932Thr
XM_017018204.1:c.2185G>A	XP_016873693.1:p.Ala729Thr
XM_024448668.1:c.2596G>A	XP_024304436.1:p.Ala866Thr
XR_001747945.2:n.4369G>A
XR_001747946.2:n.4300G>A
XR_002957189.1:n.6083G>A
NM_000352.6:c.4228G>A MANE Select	NP_000343.2:p.Ala1410Thr
NM_001287174.2:c.4231G>A	NP_001274103.1:p.Ala1411Thr
NM_001351295.2:c.4294G>A	NP_001338224.1:p.Ala1432Thr
NM_001351296.2:c.4228G>A	NP_001338225.1:p.Ala1410Thr
NM_001351297.2:c.4225G>A	NP_001338226.1:p.Ala1409Thr
NR_147094.2:n.4523G>A
NM_001287174.3:c.4231G>A	NP_001274103.1:p.Ala1411Thr