Canonical Allele Identifier: CA379790468

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418504C>G (hg19) ; chr11:g.17396957C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396957C>G , CM000673.2:g.17396957C>G	GRCh38
NC_000011.9:g.17418504C>G , CM000673.1:g.17418504C>G	GRCh37
NC_000011.8:g.17375080C>G	NCBI36
NG_008867.1:g.84946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3679G>C
ENST00000528374.2:c.669G>C
ENST00000529967.6:n.2417G>C
ENST00000532220.2:n.2326G>C
ENST00000642611.2:n.4293G>C
ENST00000644057.2:n.521G>C
ENST00000645004.2:n.1577G>C
ENST00000682051.1:n.4240G>C
ENST00000682110.1:n.4293G>C
ENST00000682140.1:c.3985+236G>C	ENSP00000507829.1:n.3985+236G>C
ENST00000682185.1:n.5383G>C
ENST00000682204.1:c.*2216G>C	ENSP00000507094.1:n.*2216G>C
ENST00000682215.1:n.4660G>C
ENST00000682288.1:c.*2509G>C	ENSP00000507506.1:n.*2509G>C
ENST00000682442.1:n.4513G>C
ENST00000682528.1:n.4370G>C
ENST00000682673.1:n.4237G>C
ENST00000682805.1:n.4660G>C
ENST00000682965.1:c.*500G>C	ENSP00000508229.1:n.*500G>C
ENST00000683093.1:n.4392G>C
ENST00000683136.1:c.3961G>C	ENSP00000507768.1:p.Val1321Leu
ENST00000683153.1:n.4335G>C
ENST00000683365.1:n.4395G>C
ENST00000683377.1:n.4293G>C
ENST00000683456.1:c.*1215G>C	ENSP00000508318.1:n.*1215G>C
ENST00000683522.1:n.4293G>C
ENST00000683562.1:c.*2247G>C	ENSP00000508265.1:n.*2247G>C
ENST00000683693.1:n.4740G>C
ENST00000683725.1:c.4078G>C	ENSP00000507496.1:p.Val1360Leu
ENST00000684010.1:n.4288G>C
ENST00000684157.1:n.4293G>C
ENST00000684253.1:n.4196G>C
ENST00000684288.1:c.*2250G>C	ENSP00000507143.1:n.*2250G>C
ENST00000684313.1:n.3725G>C
ENST00000684332.1:n.4366G>C
ENST00000684371.1:n.4399G>C
ENST00000684404.1:n.4336G>C
ENST00000684442.1:n.4517G>C
ENST00000684555.1:c.*2290G>C	ENSP00000507705.1:n.*2290G>C
ENST00000684571.1:c.3919G>C	ENSP00000506935.1:p.Val1307Leu
ENST00000684593.1:c.*3783G>C	ENSP00000507005.1:n.*3783G>C
ENST00000684711.1:c.*2474G>C	ENSP00000506841.1:n.*2474G>C
ENST00000302539.9:c.4081G>C	ENSP00000303960.4:p.Val1361Leu
ENST00000389817.8:c.4078G>C MANE Select	ENSP00000374467.4:p.Val1360Leu
ENST00000642271.1:c.4075G>C	ENSP00000493749.1:p.Val1359Leu
ENST00000642579.1:c.2132G>C
ENST00000642611.1:n.4178G>C
ENST00000642902.1:c.3860G>C
ENST00000643260.1:c.4078G>C	ENSP00000494450.1:p.Val1360Leu
ENST00000643562.1:c.*2200G>C	ENSP00000496124.1:n.*2200G>C
ENST00000643925.1:c.2718G>C
ENST00000644057.1:n.155G>C
ENST00000644484.1:c.*2479G>C	ENSP00000493558.1:n.*2479G>C
ENST00000644675.1:c.*2250G>C	ENSP00000494567.1:n.*2250G>C
ENST00000644757.1:c.*2509G>C	ENSP00000495085.1:n.*2509G>C
ENST00000644772.1:c.4144G>C	ENSP00000494321.1:p.Val1382Leu
ENST00000645004.1:n.1733G>C
ENST00000645076.1:c.3277G>C
ENST00000645417.1:c.1266G>C
ENST00000645744.1:c.*2858G>C	ENSP00000494564.1:n.*2858G>C
ENST00000645760.1:c.4499G>C
ENST00000645884.1:c.*1361G>C	ENSP00000495516.1:n.*1361G>C
ENST00000646003.1:c.*2180G>C	ENSP00000495259.1:n.*2180G>C
ENST00000646207.1:c.*2915G>C	ENSP00000495025.1:n.*2915G>C
ENST00000646276.1:c.*2497G>C	ENSP00000496070.1:n.*2497G>C
ENST00000646592.1:c.3384G>C
ENST00000646902.1:c.4045G>C	ENSP00000494101.1:p.Val1349Leu
ENST00000646993.1:c.*2620G>C	ENSP00000493720.1:n.*2620G>C
ENST00000647013.1:c.4084G>C	ENSP00000496741.1:n.4084G>C
ENST00000647015.1:c.3829G>C	ENSP00000495389.1:p.Val1277Leu
ENST00000647086.1:c.*3664G>C	ENSP00000493677.1:n.*3664G>C
ENST00000647158.1:c.*2365G>C	ENSP00000495744.1:n.*2365G>C
ENST00000302539.8:c.4081G>C	ENSP00000303960.4:p.Val1361Leu
ENST00000389817.7:c.4078G>C	ENSP00000374467.3:p.Val1360Leu
ENST00000527905.5:c.*1100G>C	ENSP00000431653.1:n.*1100G>C
ENST00000528374.1:c.560G>C
ENST00000531137.1:n.643G>C
ENST00000531891.1:c.416G>C
ENST00000532220.1:n.552G>C
NM_000352.4:c.4078G>C	NP_000343.2:p.Val1360Leu
NM_001287174.1:c.4081G>C	NP_001274103.1:p.Val1361Leu
XM_011520331.1:c.4078G>C	XP_011518633.1:p.Val1360Leu
XM_011520332.1:c.4081G>C	XP_011518634.1:p.Val1361Leu
XM_011520333.1:c.2578G>C	XP_011518635.1:p.Val860Leu
XR_930890.1:n.4144G>C
NM_001351295.1:c.4144G>C	NP_001338224.1:p.Val1382Leu
NM_001351296.1:c.4078G>C	NP_001338225.1:p.Val1360Leu
NM_001351297.1:c.4075G>C	NP_001338226.1:p.Val1359Leu
NR_147094.1:n.4373G>C
XM_017018197.2:c.4147G>C	XP_016873686.1:p.Val1383Leu
XM_017018199.1:c.4144G>C	XP_016873688.1:p.Val1382Leu
XM_017018201.2:c.4147G>C	XP_016873690.1:p.Val1383Leu
XM_017018202.1:c.2644G>C	XP_016873691.1:p.Val882Leu
XM_017018204.1:c.2035G>C	XP_016873693.1:p.Val679Leu
XM_024448668.1:c.2446G>C	XP_024304436.1:p.Val816Leu
XR_001747945.2:n.4219G>C
XR_001747946.2:n.4150G>C
XR_002957189.1:n.4815G>C
NM_000352.6:c.4078G>C MANE Select	NP_000343.2:p.Val1360Leu
NM_001287174.2:c.4081G>C	NP_001274103.1:p.Val1361Leu
NM_001351295.2:c.4144G>C	NP_001338224.1:p.Val1382Leu
NM_001351296.2:c.4078G>C	NP_001338225.1:p.Val1360Leu
NM_001351297.2:c.4075G>C	NP_001338226.1:p.Val1359Leu
NR_147094.2:n.4373G>C
NM_001287174.3:c.4081G>C	NP_001274103.1:p.Val1361Leu