Canonical Allele Identifier: CA379791266

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418584A>G (hg19) ; chr11:g.17397037A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397037A>G , CM000673.2:g.17397037A>G	GRCh38
NC_000011.9:g.17418584A>G , CM000673.1:g.17418584A>G	GRCh37
NC_000011.8:g.17375160A>G	NCBI36
NG_008867.1:g.84866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3599T>C
ENST00000528374.2:c.589T>C
ENST00000529967.6:n.2337T>C
ENST00000532220.2:n.2246T>C
ENST00000642611.2:n.4213T>C
ENST00000644057.2:n.441T>C
ENST00000645004.2:n.1497T>C
ENST00000682051.1:n.4160T>C
ENST00000682110.1:n.4213T>C
ENST00000682140.1:c.3985+156T>C	ENSP00000507829.1:n.3985+156T>C
ENST00000682185.1:n.5303T>C
ENST00000682204.1:c.*2136T>C	ENSP00000507094.1:n.*2136T>C
ENST00000682215.1:n.4580T>C
ENST00000682288.1:c.*2429T>C	ENSP00000507506.1:n.*2429T>C
ENST00000682442.1:n.4433T>C
ENST00000682528.1:n.4290T>C
ENST00000682673.1:n.4157T>C
ENST00000682805.1:n.4580T>C
ENST00000682965.1:c.*420T>C	ENSP00000508229.1:n.*420T>C
ENST00000683093.1:n.4312T>C
ENST00000683136.1:c.3881T>C	ENSP00000507768.1:p.Leu1294Pro
ENST00000683153.1:n.4255T>C
ENST00000683365.1:n.4315T>C
ENST00000683377.1:n.4213T>C
ENST00000683456.1:c.*1135T>C	ENSP00000508318.1:n.*1135T>C
ENST00000683522.1:n.4213T>C
ENST00000683562.1:c.*2167T>C	ENSP00000508265.1:n.*2167T>C
ENST00000683693.1:n.4660T>C
ENST00000683725.1:c.3998T>C	ENSP00000507496.1:p.Leu1333Pro
ENST00000684010.1:n.4208T>C
ENST00000684157.1:n.4213T>C
ENST00000684253.1:n.4116T>C
ENST00000684288.1:c.*2170T>C	ENSP00000507143.1:n.*2170T>C
ENST00000684313.1:n.3645T>C
ENST00000684332.1:n.4286T>C
ENST00000684371.1:n.4319T>C
ENST00000684404.1:n.4256T>C
ENST00000684442.1:n.4437T>C
ENST00000684555.1:c.*2210T>C	ENSP00000507705.1:n.*2210T>C
ENST00000684571.1:c.3839T>C	ENSP00000506935.1:p.Leu1280Pro
ENST00000684593.1:c.*3703T>C	ENSP00000507005.1:n.*3703T>C
ENST00000684711.1:c.*2394T>C	ENSP00000506841.1:n.*2394T>C
ENST00000302539.9:c.4001T>C	ENSP00000303960.4:p.Leu1334Pro
ENST00000389817.8:c.3998T>C MANE Select	ENSP00000374467.4:p.Leu1333Pro
ENST00000642271.1:c.3995T>C	ENSP00000493749.1:p.Leu1332Pro
ENST00000642579.1:c.2073-21T>C
ENST00000642611.1:n.4098T>C
ENST00000642902.1:c.3780T>C
ENST00000643260.1:c.3998T>C	ENSP00000494450.1:p.Leu1333Pro
ENST00000643562.1:c.*2120T>C	ENSP00000496124.1:n.*2120T>C
ENST00000643925.1:c.2638T>C
ENST00000644057.1:n.75T>C
ENST00000644484.1:c.*2399T>C	ENSP00000493558.1:n.*2399T>C
ENST00000644675.1:c.*2170T>C	ENSP00000494567.1:n.*2170T>C
ENST00000644757.1:c.*2429T>C	ENSP00000495085.1:n.*2429T>C
ENST00000644772.1:c.4064T>C	ENSP00000494321.1:p.Leu1355Pro
ENST00000645004.1:n.1653T>C
ENST00000645076.1:c.3197T>C
ENST00000645417.1:c.1186T>C
ENST00000645744.1:c.*2778T>C	ENSP00000494564.1:n.*2778T>C
ENST00000645760.1:c.4419T>C
ENST00000645884.1:c.*1281T>C	ENSP00000495516.1:n.*1281T>C
ENST00000646003.1:c.*2100T>C	ENSP00000495259.1:n.*2100T>C
ENST00000646207.1:c.*2835T>C	ENSP00000495025.1:n.*2835T>C
ENST00000646276.1:c.*2417T>C	ENSP00000496070.1:n.*2417T>C
ENST00000646592.1:c.3304T>C
ENST00000646902.1:c.3986-21T>C	ENSP00000494101.1:n.3986-21T>C
ENST00000646993.1:c.*2540T>C	ENSP00000493720.1:n.*2540T>C
ENST00000647013.1:c.4004T>C	ENSP00000496741.1:n.4004T>C
ENST00000647015.1:c.3749T>C	ENSP00000495389.1:p.Leu1250Pro
ENST00000647086.1:c.*3605-21T>C	ENSP00000493677.1:n.*3605-21T>C
ENST00000647158.1:c.*2285T>C	ENSP00000495744.1:n.*2285T>C
ENST00000302539.8:c.4001T>C	ENSP00000303960.4:p.Leu1334Pro
ENST00000389817.7:c.3998T>C	ENSP00000374467.3:p.Leu1333Pro
ENST00000527905.5:c.*1020T>C	ENSP00000431653.1:n.*1020T>C
ENST00000528374.1:c.480T>C
ENST00000531137.1:n.563T>C
ENST00000531891.1:c.357-21T>C
ENST00000532220.1:n.472T>C
NM_000352.4:c.3998T>C	NP_000343.2:p.Leu1333Pro
NM_001287174.1:c.4001T>C	NP_001274103.1:p.Leu1334Pro
XM_011520331.1:c.3998T>C	XP_011518633.1:p.Leu1333Pro
XM_011520332.1:c.4001T>C	XP_011518634.1:p.Leu1334Pro
XM_011520333.1:c.2498T>C	XP_011518635.1:p.Leu833Pro
XR_930890.1:n.4064T>C
NM_001351295.1:c.4064T>C	NP_001338224.1:p.Leu1355Pro
NM_001351296.1:c.3998T>C	NP_001338225.1:p.Leu1333Pro
NM_001351297.1:c.3995T>C	NP_001338226.1:p.Leu1332Pro
NR_147094.1:n.4293T>C
XM_017018197.2:c.4067T>C	XP_016873686.1:p.Leu1356Pro
XM_017018199.1:c.4064T>C	XP_016873688.1:p.Leu1355Pro
XM_017018201.2:c.4067T>C	XP_016873690.1:p.Leu1356Pro
XM_017018202.1:c.2564T>C	XP_016873691.1:p.Leu855Pro
XM_017018204.1:c.1955T>C	XP_016873693.1:p.Leu652Pro
XM_024448668.1:c.2366T>C	XP_024304436.1:p.Leu789Pro
XR_001747945.2:n.4139T>C
XR_001747946.2:n.4070T>C
XR_002957189.1:n.4735T>C
NM_000352.6:c.3998T>C MANE Select	NP_000343.2:p.Leu1333Pro
NM_001287174.2:c.4001T>C	NP_001274103.1:p.Leu1334Pro
NM_001351295.2:c.4064T>C	NP_001338224.1:p.Leu1355Pro
NM_001351296.2:c.3998T>C	NP_001338225.1:p.Leu1333Pro
NM_001351297.2:c.3995T>C	NP_001338226.1:p.Leu1332Pro
NR_147094.2:n.4293T>C
NM_001287174.3:c.4001T>C	NP_001274103.1:p.Leu1334Pro