Canonical Allele Identifier: CA379790798

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418541C>G (hg19) ; chr11:g.17396994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396994C>G , CM000673.2:g.17396994C>G	GRCh38
NC_000011.9:g.17418541C>G , CM000673.1:g.17418541C>G	GRCh37
NC_000011.8:g.17375117C>G	NCBI36
NG_008867.1:g.84909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3642G>C
ENST00000528374.2:c.632G>C
ENST00000529967.6:n.2380G>C
ENST00000532220.2:n.2289G>C
ENST00000642611.2:n.4256G>C
ENST00000644057.2:n.484G>C
ENST00000645004.2:n.1540G>C
ENST00000682051.1:n.4203G>C
ENST00000682110.1:n.4256G>C
ENST00000682140.1:c.3985+199G>C	ENSP00000507829.1:n.3985+199G>C
ENST00000682185.1:n.5346G>C
ENST00000682204.1:c.*2179G>C	ENSP00000507094.1:n.*2179G>C
ENST00000682215.1:n.4623G>C
ENST00000682288.1:c.*2472G>C	ENSP00000507506.1:n.*2472G>C
ENST00000682442.1:n.4476G>C
ENST00000682528.1:n.4333G>C
ENST00000682673.1:n.4200G>C
ENST00000682805.1:n.4623G>C
ENST00000682965.1:c.*463G>C	ENSP00000508229.1:n.*463G>C
ENST00000683093.1:n.4355G>C
ENST00000683136.1:c.3924G>C	ENSP00000507768.1:p.Gln1308His
ENST00000683153.1:n.4298G>C
ENST00000683365.1:n.4358G>C
ENST00000683377.1:n.4256G>C
ENST00000683456.1:c.*1178G>C	ENSP00000508318.1:n.*1178G>C
ENST00000683522.1:n.4256G>C
ENST00000683562.1:c.*2210G>C	ENSP00000508265.1:n.*2210G>C
ENST00000683693.1:n.4703G>C
ENST00000683725.1:c.4041G>C	ENSP00000507496.1:p.Gln1347His
ENST00000684010.1:n.4251G>C
ENST00000684157.1:n.4256G>C
ENST00000684253.1:n.4159G>C
ENST00000684288.1:c.*2213G>C	ENSP00000507143.1:n.*2213G>C
ENST00000684313.1:n.3688G>C
ENST00000684332.1:n.4329G>C
ENST00000684371.1:n.4362G>C
ENST00000684404.1:n.4299G>C
ENST00000684442.1:n.4480G>C
ENST00000684555.1:c.*2253G>C	ENSP00000507705.1:n.*2253G>C
ENST00000684571.1:c.3882G>C	ENSP00000506935.1:p.Gln1294His
ENST00000684593.1:c.*3746G>C	ENSP00000507005.1:n.*3746G>C
ENST00000684711.1:c.*2437G>C	ENSP00000506841.1:n.*2437G>C
ENST00000302539.9:c.4044G>C	ENSP00000303960.4:p.Gln1348His
ENST00000389817.8:c.4041G>C MANE Select	ENSP00000374467.4:p.Gln1347His
ENST00000642271.1:c.4038G>C	ENSP00000493749.1:p.Gln1346His
ENST00000642579.1:c.2095G>C
ENST00000642611.1:n.4141G>C
ENST00000642902.1:c.3823G>C
ENST00000643260.1:c.4041G>C	ENSP00000494450.1:p.Gln1347His
ENST00000643562.1:c.*2163G>C	ENSP00000496124.1:n.*2163G>C
ENST00000643925.1:c.2681G>C
ENST00000644057.1:n.118G>C
ENST00000644484.1:c.*2442G>C	ENSP00000493558.1:n.*2442G>C
ENST00000644675.1:c.*2213G>C	ENSP00000494567.1:n.*2213G>C
ENST00000644757.1:c.*2472G>C	ENSP00000495085.1:n.*2472G>C
ENST00000644772.1:c.4107G>C	ENSP00000494321.1:p.Gln1369His
ENST00000645004.1:n.1696G>C
ENST00000645076.1:c.3240G>C
ENST00000645417.1:c.1229G>C
ENST00000645744.1:c.*2821G>C	ENSP00000494564.1:n.*2821G>C
ENST00000645760.1:c.4462G>C
ENST00000645884.1:c.*1324G>C	ENSP00000495516.1:n.*1324G>C
ENST00000646003.1:c.*2143G>C	ENSP00000495259.1:n.*2143G>C
ENST00000646207.1:c.*2878G>C	ENSP00000495025.1:n.*2878G>C
ENST00000646276.1:c.*2460G>C	ENSP00000496070.1:n.*2460G>C
ENST00000646592.1:c.3347G>C
ENST00000646902.1:c.4008G>C	ENSP00000494101.1:p.Gln1336His
ENST00000646993.1:c.*2583G>C	ENSP00000493720.1:n.*2583G>C
ENST00000647013.1:c.4047G>C	ENSP00000496741.1:n.4047G>C
ENST00000647015.1:c.3792G>C	ENSP00000495389.1:p.Gln1264His
ENST00000647086.1:c.*3627G>C	ENSP00000493677.1:n.*3627G>C
ENST00000647158.1:c.*2328G>C	ENSP00000495744.1:n.*2328G>C
ENST00000302539.8:c.4044G>C	ENSP00000303960.4:p.Gln1348His
ENST00000389817.7:c.4041G>C	ENSP00000374467.3:p.Gln1347His
ENST00000527905.5:c.*1063G>C	ENSP00000431653.1:n.*1063G>C
ENST00000528374.1:c.523G>C
ENST00000531137.1:n.606G>C
ENST00000531891.1:c.379G>C
ENST00000532220.1:n.515G>C
NM_000352.4:c.4041G>C	NP_000343.2:p.Gln1347His
NM_001287174.1:c.4044G>C	NP_001274103.1:p.Gln1348His
XM_011520331.1:c.4041G>C	XP_011518633.1:p.Gln1347His
XM_011520332.1:c.4044G>C	XP_011518634.1:p.Gln1348His
XM_011520333.1:c.2541G>C	XP_011518635.1:p.Gln847His
XR_930890.1:n.4107G>C
NM_001351295.1:c.4107G>C	NP_001338224.1:p.Gln1369His
NM_001351296.1:c.4041G>C	NP_001338225.1:p.Gln1347His
NM_001351297.1:c.4038G>C	NP_001338226.1:p.Gln1346His
NR_147094.1:n.4336G>C
XM_017018197.2:c.4110G>C	XP_016873686.1:p.Gln1370His
XM_017018199.1:c.4107G>C	XP_016873688.1:p.Gln1369His
XM_017018201.2:c.4110G>C	XP_016873690.1:p.Gln1370His
XM_017018202.1:c.2607G>C	XP_016873691.1:p.Gln869His
XM_017018204.1:c.1998G>C	XP_016873693.1:p.Gln666His
XM_024448668.1:c.2409G>C	XP_024304436.1:p.Gln803His
XR_001747945.2:n.4182G>C
XR_001747946.2:n.4113G>C
XR_002957189.1:n.4778G>C
NM_000352.6:c.4041G>C MANE Select	NP_000343.2:p.Gln1347His
NM_001287174.2:c.4044G>C	NP_001274103.1:p.Gln1348His
NM_001351295.2:c.4107G>C	NP_001338224.1:p.Gln1369His
NM_001351296.2:c.4041G>C	NP_001338225.1:p.Gln1347His
NM_001351297.2:c.4038G>C	NP_001338226.1:p.Gln1346His
NR_147094.2:n.4336G>C
NM_001287174.3:c.4044G>C	NP_001274103.1:p.Gln1348His