Canonical Allele Identifier: CA379790443

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418500A>G (hg19) ; chr11:g.17396953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396953A>G , CM000673.2:g.17396953A>G	GRCh38
NC_000011.9:g.17418500A>G , CM000673.1:g.17418500A>G	GRCh37
NC_000011.8:g.17375076A>G	NCBI36
NG_008867.1:g.84950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3683T>C
ENST00000528374.2:c.673T>C
ENST00000529967.6:n.2421T>C
ENST00000532220.2:n.2330T>C
ENST00000642611.2:n.4297T>C
ENST00000644057.2:n.525T>C
ENST00000645004.2:n.1581T>C
ENST00000682051.1:n.4244T>C
ENST00000682110.1:n.4297T>C
ENST00000682140.1:c.3985+240T>C	ENSP00000507829.1:n.3985+240T>C
ENST00000682185.1:n.5387T>C
ENST00000682204.1:c.*2220T>C	ENSP00000507094.1:n.*2220T>C
ENST00000682215.1:n.4664T>C
ENST00000682288.1:c.*2513T>C	ENSP00000507506.1:n.*2513T>C
ENST00000682442.1:n.4517T>C
ENST00000682528.1:n.4374T>C
ENST00000682673.1:n.4241T>C
ENST00000682805.1:n.4664T>C
ENST00000682965.1:c.*504T>C	ENSP00000508229.1:n.*504T>C
ENST00000683093.1:n.4396T>C
ENST00000683136.1:c.3965T>C	ENSP00000507768.1:p.Leu1322Pro
ENST00000683153.1:n.4339T>C
ENST00000683365.1:n.4399T>C
ENST00000683377.1:n.4297T>C
ENST00000683456.1:c.*1219T>C	ENSP00000508318.1:n.*1219T>C
ENST00000683522.1:n.4297T>C
ENST00000683562.1:c.*2251T>C	ENSP00000508265.1:n.*2251T>C
ENST00000683693.1:n.4744T>C
ENST00000683725.1:c.4082T>C	ENSP00000507496.1:p.Leu1361Pro
ENST00000684010.1:n.4292T>C
ENST00000684157.1:n.4297T>C
ENST00000684253.1:n.4200T>C
ENST00000684288.1:c.*2254T>C	ENSP00000507143.1:n.*2254T>C
ENST00000684313.1:n.3729T>C
ENST00000684332.1:n.4370T>C
ENST00000684371.1:n.4403T>C
ENST00000684404.1:n.4340T>C
ENST00000684442.1:n.4521T>C
ENST00000684555.1:c.*2294T>C	ENSP00000507705.1:n.*2294T>C
ENST00000684571.1:c.3923T>C	ENSP00000506935.1:p.Leu1308Pro
ENST00000684593.1:c.*3787T>C	ENSP00000507005.1:n.*3787T>C
ENST00000684711.1:c.*2478T>C	ENSP00000506841.1:n.*2478T>C
ENST00000302539.9:c.4085T>C	ENSP00000303960.4:p.Leu1362Pro
ENST00000389817.8:c.4082T>C MANE Select	ENSP00000374467.4:p.Leu1361Pro
ENST00000642271.1:c.4079T>C	ENSP00000493749.1:p.Leu1360Pro
ENST00000642579.1:c.2136T>C
ENST00000642611.1:n.4182T>C
ENST00000642902.1:c.3864T>C
ENST00000643260.1:c.4082T>C	ENSP00000494450.1:p.Leu1361Pro
ENST00000643562.1:c.*2204T>C	ENSP00000496124.1:n.*2204T>C
ENST00000643925.1:c.2722T>C
ENST00000644057.1:n.159T>C
ENST00000644484.1:c.*2483T>C	ENSP00000493558.1:n.*2483T>C
ENST00000644675.1:c.*2254T>C	ENSP00000494567.1:n.*2254T>C
ENST00000644757.1:c.*2513T>C	ENSP00000495085.1:n.*2513T>C
ENST00000644772.1:c.4148T>C	ENSP00000494321.1:p.Leu1383Pro
ENST00000645004.1:n.1737T>C
ENST00000645076.1:c.3281T>C
ENST00000645417.1:c.1270T>C
ENST00000645744.1:c.*2862T>C	ENSP00000494564.1:n.*2862T>C
ENST00000645760.1:c.4503T>C
ENST00000645884.1:c.*1365T>C	ENSP00000495516.1:n.*1365T>C
ENST00000646003.1:c.*2184T>C	ENSP00000495259.1:n.*2184T>C
ENST00000646207.1:c.*2919T>C	ENSP00000495025.1:n.*2919T>C
ENST00000646276.1:c.*2501T>C	ENSP00000496070.1:n.*2501T>C
ENST00000646592.1:c.3388T>C
ENST00000646902.1:c.4049T>C	ENSP00000494101.1:p.Leu1350Pro
ENST00000646993.1:c.*2624T>C	ENSP00000493720.1:n.*2624T>C
ENST00000647013.1:c.4088T>C	ENSP00000496741.1:n.4088T>C
ENST00000647015.1:c.3833T>C	ENSP00000495389.1:p.Leu1278Pro
ENST00000647086.1:c.*3668T>C	ENSP00000493677.1:n.*3668T>C
ENST00000647158.1:c.*2369T>C	ENSP00000495744.1:n.*2369T>C
ENST00000302539.8:c.4085T>C	ENSP00000303960.4:p.Leu1362Pro
ENST00000389817.7:c.4082T>C	ENSP00000374467.3:p.Leu1361Pro
ENST00000527905.5:c.*1104T>C	ENSP00000431653.1:n.*1104T>C
ENST00000528374.1:c.564T>C
ENST00000531137.1:n.647T>C
ENST00000531891.1:c.420T>C
ENST00000532220.1:n.556T>C
NM_000352.4:c.4082T>C	NP_000343.2:p.Leu1361Pro
NM_001287174.1:c.4085T>C	NP_001274103.1:p.Leu1362Pro
XM_011520331.1:c.4082T>C	XP_011518633.1:p.Leu1361Pro
XM_011520332.1:c.4085T>C	XP_011518634.1:p.Leu1362Pro
XM_011520333.1:c.2582T>C	XP_011518635.1:p.Leu861Pro
XR_930890.1:n.4148T>C
NM_001351295.1:c.4148T>C	NP_001338224.1:p.Leu1383Pro
NM_001351296.1:c.4082T>C	NP_001338225.1:p.Leu1361Pro
NM_001351297.1:c.4079T>C	NP_001338226.1:p.Leu1360Pro
NR_147094.1:n.4377T>C
XM_017018197.2:c.4151T>C	XP_016873686.1:p.Leu1384Pro
XM_017018199.1:c.4148T>C	XP_016873688.1:p.Leu1383Pro
XM_017018201.2:c.4151T>C	XP_016873690.1:p.Leu1384Pro
XM_017018202.1:c.2648T>C	XP_016873691.1:p.Leu883Pro
XM_017018204.1:c.2039T>C	XP_016873693.1:p.Leu680Pro
XM_024448668.1:c.2450T>C	XP_024304436.1:p.Leu817Pro
XR_001747945.2:n.4223T>C
XR_001747946.2:n.4154T>C
XR_002957189.1:n.4819T>C
NM_000352.6:c.4082T>C MANE Select	NP_000343.2:p.Leu1361Pro
NM_001287174.2:c.4085T>C	NP_001274103.1:p.Leu1362Pro
NM_001351295.2:c.4148T>C	NP_001338224.1:p.Leu1383Pro
NM_001351296.2:c.4082T>C	NP_001338225.1:p.Leu1361Pro
NM_001351297.2:c.4079T>C	NP_001338226.1:p.Leu1360Pro
NR_147094.2:n.4377T>C
NM_001287174.3:c.4085T>C	NP_001274103.1:p.Leu1362Pro