Canonical Allele Identifier: CA473298545

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396988-C-G
• MyVariant Identifiers: chr11:g.17418535C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396988C>G , CM000673.2:g.17396988C>G	GRCh38
NC_000011.9:g.17418535C>G , CM000673.1:g.17418535C>G	GRCh37
NC_000011.8:g.17375111C>G	NCBI36
NG_008867.1:g.84915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3648G>C
ENST00000528374.2:c.638G>C
ENST00000529967.6:n.2386G>C
ENST00000532220.2:n.2295G>C
ENST00000642611.2:n.4262G>C
ENST00000644057.2:n.490G>C
ENST00000645004.2:n.1546G>C
ENST00000682051.1:n.4209G>C
ENST00000682110.1:n.4262G>C
ENST00000682140.1:c.3985+205G>C	ENSP00000507829.1:n.3985+205G>C
ENST00000682185.1:n.5352G>C
ENST00000682204.1:c.*2185G>C	ENSP00000507094.1:n.*2185G>C
ENST00000682215.1:n.4629G>C
ENST00000682288.1:c.*2478G>C	ENSP00000507506.1:n.*2478G>C
ENST00000682442.1:n.4482G>C
ENST00000682528.1:n.4339G>C
ENST00000682673.1:n.4206G>C
ENST00000682805.1:n.4629G>C
ENST00000682965.1:c.*469G>C	ENSP00000508229.1:n.*469G>C
ENST00000683093.1:n.4361G>C
ENST00000683136.1:c.3930G>C	ENSP00000507768.1:p.Leu1310=
ENST00000683153.1:n.4304G>C
ENST00000683365.1:n.4364G>C
ENST00000683377.1:n.4262G>C
ENST00000683456.1:c.*1184G>C	ENSP00000508318.1:n.*1184G>C
ENST00000683522.1:n.4262G>C
ENST00000683562.1:c.*2216G>C	ENSP00000508265.1:n.*2216G>C
ENST00000683693.1:n.4709G>C
ENST00000683725.1:c.4047G>C	ENSP00000507496.1:p.Leu1349=
ENST00000684010.1:n.4257G>C
ENST00000684157.1:n.4262G>C
ENST00000684253.1:n.4165G>C
ENST00000684288.1:c.*2219G>C	ENSP00000507143.1:n.*2219G>C
ENST00000684313.1:n.3694G>C
ENST00000684332.1:n.4335G>C
ENST00000684371.1:n.4368G>C
ENST00000684404.1:n.4305G>C
ENST00000684442.1:n.4486G>C
ENST00000684555.1:c.*2259G>C	ENSP00000507705.1:n.*2259G>C
ENST00000684571.1:c.3888G>C	ENSP00000506935.1:p.Leu1296=
ENST00000684593.1:c.*3752G>C	ENSP00000507005.1:n.*3752G>C
ENST00000684711.1:c.*2443G>C	ENSP00000506841.1:n.*2443G>C
ENST00000302539.9:c.4050G>C	ENSP00000303960.4:p.Leu1350=
ENST00000389817.8:c.4047G>C MANE Select	ENSP00000374467.4:p.Leu1349=
ENST00000642271.1:c.4044G>C	ENSP00000493749.1:p.Leu1348=
ENST00000642579.1:c.2101G>C
ENST00000642611.1:n.4147G>C
ENST00000642902.1:c.3829G>C
ENST00000643260.1:c.4047G>C	ENSP00000494450.1:p.Leu1349=
ENST00000643562.1:c.*2169G>C	ENSP00000496124.1:n.*2169G>C
ENST00000643925.1:c.2687G>C
ENST00000644057.1:n.124G>C
ENST00000644484.1:c.*2448G>C	ENSP00000493558.1:n.*2448G>C
ENST00000644675.1:c.*2219G>C	ENSP00000494567.1:n.*2219G>C
ENST00000644757.1:c.*2478G>C	ENSP00000495085.1:n.*2478G>C
ENST00000644772.1:c.4113G>C	ENSP00000494321.1:p.Leu1371=
ENST00000645004.1:n.1702G>C
ENST00000645076.1:c.3246G>C
ENST00000645417.1:c.1235G>C
ENST00000645744.1:c.*2827G>C	ENSP00000494564.1:n.*2827G>C
ENST00000645760.1:c.4468G>C
ENST00000645884.1:c.*1330G>C	ENSP00000495516.1:n.*1330G>C
ENST00000646003.1:c.*2149G>C	ENSP00000495259.1:n.*2149G>C
ENST00000646207.1:c.*2884G>C	ENSP00000495025.1:n.*2884G>C
ENST00000646276.1:c.*2466G>C	ENSP00000496070.1:n.*2466G>C
ENST00000646592.1:c.3353G>C
ENST00000646902.1:c.4014G>C	ENSP00000494101.1:p.Leu1338=
ENST00000646993.1:c.*2589G>C	ENSP00000493720.1:n.*2589G>C
ENST00000647013.1:c.4053G>C	ENSP00000496741.1:n.4053G>C
ENST00000647015.1:c.3798G>C	ENSP00000495389.1:p.Leu1266=
ENST00000647086.1:c.*3633G>C	ENSP00000493677.1:n.*3633G>C
ENST00000647158.1:c.*2334G>C	ENSP00000495744.1:n.*2334G>C
ENST00000302539.8:c.4050G>C	ENSP00000303960.4:p.Leu1350=
ENST00000389817.7:c.4047G>C	ENSP00000374467.3:p.Leu1349=
ENST00000527905.5:c.*1069G>C	ENSP00000431653.1:n.*1069G>C
ENST00000528374.1:c.529G>C
ENST00000531137.1:n.612G>C
ENST00000531891.1:c.385G>C
ENST00000532220.1:n.521G>C
NM_000352.4:c.4047G>C	NP_000343.2:p.Leu1349=
NM_001287174.1:c.4050G>C	NP_001274103.1:p.Leu1350=
XM_011520331.1:c.4047G>C	XP_011518633.1:p.Leu1349=
XM_011520332.1:c.4050G>C	XP_011518634.1:p.Leu1350=
XM_011520333.1:c.2547G>C	XP_011518635.1:p.Leu849=
XR_930890.1:n.4113G>C
NM_001351295.1:c.4113G>C	NP_001338224.1:p.Leu1371=
NM_001351296.1:c.4047G>C	NP_001338225.1:p.Leu1349=
NM_001351297.1:c.4044G>C	NP_001338226.1:p.Leu1348=
NR_147094.1:n.4342G>C
XM_017018197.2:c.4116G>C	XP_016873686.1:p.Leu1372=
XM_017018199.1:c.4113G>C	XP_016873688.1:p.Leu1371=
XM_017018201.2:c.4116G>C	XP_016873690.1:p.Leu1372=
XM_017018202.1:c.2613G>C	XP_016873691.1:p.Leu871=
XM_017018204.1:c.2004G>C	XP_016873693.1:p.Leu668=
XM_024448668.1:c.2415G>C	XP_024304436.1:p.Leu805=
XR_001747945.2:n.4188G>C
XR_001747946.2:n.4119G>C
XR_002957189.1:n.4784G>C
NM_000352.6:c.4047G>C MANE Select	NP_000343.2:p.Leu1349=
NM_001287174.2:c.4050G>C	NP_001274103.1:p.Leu1350=
NM_001351295.2:c.4113G>C	NP_001338224.1:p.Leu1371=
NM_001351296.2:c.4047G>C	NP_001338225.1:p.Leu1349=
NM_001351297.2:c.4044G>C	NP_001338226.1:p.Leu1348=
NR_147094.2:n.4342G>C
NM_001287174.3:c.4050G>C	NP_001274103.1:p.Leu1350=