Canonical Allele Identifier: CA379788209

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417445C>G (hg19) ; chr11:g.17395898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395898C>G , CM000673.2:g.17395898C>G	GRCh38
NC_000011.9:g.17417445C>G , CM000673.1:g.17417445C>G	GRCh37
NC_000011.8:g.17374021C>G	NCBI36
NG_008867.1:g.86005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3753G>C
ENST00000528374.2:c.743G>C
ENST00000529967.6:n.2491G>C
ENST00000532220.2:n.3385G>C
ENST00000642611.2:n.5352G>C
ENST00000644057.2:n.595G>C
ENST00000645004.2:n.1651G>C
ENST00000682051.1:n.4314G>C
ENST00000682110.1:n.4367G>C
ENST00000682140.1:c.4018G>C	ENSP00000507829.1:p.Val1340Leu
ENST00000682185.1:n.5457G>C
ENST00000682204.1:c.*2290G>C	ENSP00000507094.1:n.*2290G>C
ENST00000682215.1:n.4734G>C
ENST00000682288.1:c.*2583G>C	ENSP00000507506.1:n.*2583G>C
ENST00000682442.1:n.4587G>C
ENST00000682528.1:n.4444G>C
ENST00000682673.1:n.4311G>C
ENST00000682805.1:n.4772G>C
ENST00000682965.1:c.*574G>C	ENSP00000508229.1:n.*574G>C
ENST00000683093.1:n.5451G>C
ENST00000683136.1:c.4035G>C	ENSP00000507768.1:p.Lys1345Asn
ENST00000683153.1:n.4409G>C
ENST00000683365.1:n.4469G>C
ENST00000683377.1:n.4367G>C
ENST00000683456.1:c.*1289G>C	ENSP00000508318.1:n.*1289G>C
ENST00000683522.1:n.4367G>C
ENST00000683562.1:c.*2321G>C	ENSP00000508265.1:n.*2321G>C
ENST00000683693.1:n.5799G>C
ENST00000683725.1:c.4152G>C	ENSP00000507496.1:p.Lys1384Asn
ENST00000684010.1:n.4362G>C
ENST00000684157.1:n.5352G>C
ENST00000684253.1:n.4270G>C
ENST00000684288.1:c.*2324G>C	ENSP00000507143.1:n.*2324G>C
ENST00000684313.1:n.3799G>C
ENST00000684332.1:n.4440G>C
ENST00000684371.1:n.4473G>C
ENST00000684404.1:n.5395G>C
ENST00000684442.1:n.4591G>C
ENST00000684555.1:c.*2364G>C	ENSP00000507705.1:n.*2364G>C
ENST00000684571.1:c.3993G>C	ENSP00000506935.1:p.Lys1331Asn
ENST00000684593.1:c.*3857G>C	ENSP00000507005.1:n.*3857G>C
ENST00000684711.1:c.*2548G>C	ENSP00000506841.1:n.*2548G>C
ENST00000302539.9:c.4155G>C	ENSP00000303960.4:p.Lys1385Asn
ENST00000389817.8:c.4152G>C MANE Select	ENSP00000374467.4:p.Lys1384Asn
ENST00000642271.1:c.4149G>C	ENSP00000493749.1:p.Lys1383Asn
ENST00000642579.1:c.2206G>C
ENST00000642611.1:n.5237G>C
ENST00000642902.1:c.3934G>C
ENST00000643260.1:c.4152G>C	ENSP00000494450.1:p.Lys1384Asn
ENST00000643562.1:c.*2274G>C	ENSP00000496124.1:n.*2274G>C
ENST00000643925.1:c.2792G>C
ENST00000644057.1:n.229G>C
ENST00000644484.1:c.*3538G>C	ENSP00000493558.1:n.*3538G>C
ENST00000644675.1:c.*2324G>C	ENSP00000494567.1:n.*2324G>C
ENST00000644757.1:c.*3202+366G>C	ENSP00000495085.1:n.*3202+366G>C
ENST00000644772.1:c.4218G>C	ENSP00000494321.1:p.Lys1406Asn
ENST00000645004.1:n.1845G>C
ENST00000645076.1:c.3351G>C
ENST00000645417.1:c.1340G>C
ENST00000645744.1:c.*3917G>C	ENSP00000494564.1:n.*3917G>C
ENST00000645760.1:c.4573G>C
ENST00000645884.1:c.*1435G>C	ENSP00000495516.1:n.*1435G>C
ENST00000646003.1:c.*2254G>C	ENSP00000495259.1:n.*2254G>C
ENST00000646207.1:c.*2989G>C	ENSP00000495025.1:n.*2989G>C
ENST00000646276.1:c.*3556G>C	ENSP00000496070.1:n.*3556G>C
ENST00000646592.1:c.3458G>C
ENST00000646902.1:c.4119G>C	ENSP00000494101.1:p.Lys1373Asn
ENST00000646993.1:c.*2694G>C	ENSP00000493720.1:n.*2694G>C
ENST00000647013.1:c.4158G>C	ENSP00000496741.1:n.4158G>C
ENST00000647015.1:c.3903G>C	ENSP00000495389.1:p.Lys1301Asn
ENST00000647086.1:c.*3738G>C	ENSP00000493677.1:n.*3738G>C
ENST00000647158.1:c.*2439G>C	ENSP00000495744.1:n.*2439G>C
ENST00000302539.8:c.4155G>C	ENSP00000303960.4:p.Lys1385Asn
ENST00000389817.7:c.4152G>C	ENSP00000374467.3:p.Lys1384Asn
ENST00000525022.1:n.18G>C
ENST00000526168.5:c.20G>C
NM_000352.4:c.4152G>C	NP_000343.2:p.Lys1384Asn
NM_001287174.1:c.4155G>C	NP_001274103.1:p.Lys1385Asn
XM_011520331.1:c.4152G>C	XP_011518633.1:p.Lys1384Asn
XM_011520332.1:c.4155G>C	XP_011518634.1:p.Lys1385Asn
XM_011520333.1:c.2652G>C	XP_011518635.1:p.Lys884Asn
XR_930890.1:n.4218G>C
NM_001351295.1:c.4218G>C	NP_001338224.1:p.Lys1406Asn
NM_001351296.1:c.4152G>C	NP_001338225.1:p.Lys1384Asn
NM_001351297.1:c.4149G>C	NP_001338226.1:p.Lys1383Asn
NR_147094.1:n.4447G>C
XM_017018197.2:c.4221G>C	XP_016873686.1:p.Lys1407Asn
XM_017018199.1:c.4218G>C	XP_016873688.1:p.Lys1406Asn
XM_017018201.2:c.4221G>C	XP_016873690.1:p.Lys1407Asn
XM_017018202.1:c.2718G>C	XP_016873691.1:p.Lys906Asn
XM_017018204.1:c.2109G>C	XP_016873693.1:p.Lys703Asn
XM_024448668.1:c.2520G>C	XP_024304436.1:p.Lys840Asn
XR_001747945.2:n.4293G>C
XR_001747946.2:n.4224G>C
XR_002957189.1:n.5874G>C
NM_000352.6:c.4152G>C MANE Select	NP_000343.2:p.Lys1384Asn
NM_001287174.2:c.4155G>C	NP_001274103.1:p.Lys1385Asn
NM_001351295.2:c.4218G>C	NP_001338224.1:p.Lys1406Asn
NM_001351296.2:c.4152G>C	NP_001338225.1:p.Lys1384Asn
NM_001351297.2:c.4149G>C	NP_001338226.1:p.Lys1383Asn
NR_147094.2:n.4447G>C
NM_001287174.3:c.4155G>C	NP_001274103.1:p.Lys1385Asn