Canonical Allele Identifier: CA379815210

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2703745
• ClinVar RCV Id: RCV003579474
• MyVariant Identifiers: chr11:g.17449877C>T (hg19) ; chr11:g.17428330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428330C>T , CM000673.2:g.17428330C>T	GRCh38
NC_000011.9:g.17449877C>T , CM000673.1:g.17449877C>T	GRCh37
NC_000011.8:g.17406453C>T	NCBI36
NG_008867.1:g.53573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1668G>A
ENST00000529967.6:n.258G>A
ENST00000642611.2:n.2065G>A
ENST00000682051.1:n.2012G>A
ENST00000682110.1:n.2065G>A
ENST00000682140.1:c.1996G>A	ENSP00000507829.1:p.Val666Ile
ENST00000682185.1:n.3304G>A
ENST00000682204.1:c.*137G>A	ENSP00000507094.1:n.*137G>A
ENST00000682215.1:n.2065G>A
ENST00000682288.1:c.*427G>A	ENSP00000507506.1:n.*427G>A
ENST00000682442.1:n.2186G>A
ENST00000682528.1:n.2065G>A
ENST00000682673.1:n.2012G>A
ENST00000682805.1:n.2065G>A
ENST00000682965.1:c.1996G>A	ENSP00000508229.1:p.Val666Ile
ENST00000683093.1:n.2167G>A
ENST00000683136.1:c.1996G>A	ENSP00000507768.1:p.Val666Ile
ENST00000683153.1:n.2224G>A
ENST00000683253.1:n.3081G>A
ENST00000683365.1:n.2167G>A
ENST00000683377.1:n.2065G>A
ENST00000683456.1:c.1996G>A	ENSP00000508318.1:p.Val666Ile
ENST00000683522.1:n.2065G>A
ENST00000683562.1:c.*168G>A	ENSP00000508265.1:n.*168G>A
ENST00000683693.1:n.2065G>A
ENST00000683725.1:c.1999G>A	ENSP00000507496.1:p.Val667Ile
ENST00000684010.1:n.2065G>A
ENST00000684157.1:n.2065G>A
ENST00000684253.1:n.1971G>A
ENST00000684288.1:c.*168G>A	ENSP00000507143.1:n.*168G>A
ENST00000684313.1:n.1724-11368G>A
ENST00000684332.1:n.2138G>A
ENST00000684371.1:n.2171G>A
ENST00000684404.1:n.2065G>A
ENST00000684442.1:n.2065G>A
ENST00000684555.1:c.*208G>A	ENSP00000507705.1:n.*208G>A
ENST00000684571.1:c.1840G>A	ENSP00000506935.1:p.Val614Ile
ENST00000684593.1:c.*1704G>A	ENSP00000507005.1:n.*1704G>A
ENST00000684711.1:c.*395G>A	ENSP00000506841.1:n.*395G>A
ENST00000302539.9:c.1999G>A	ENSP00000303960.4:p.Val667Ile
ENST00000389817.8:c.1999G>A MANE Select	ENSP00000374467.4:p.Val667Ile
ENST00000532728.6:c.1580G>A
ENST00000642271.1:c.1996G>A	ENSP00000493749.1:p.Val666Ile
ENST00000642579.1:c.80G>A
ENST00000642611.1:n.1950G>A
ENST00000642902.1:c.1834G>A
ENST00000643260.1:c.1996G>A	ENSP00000494450.1:p.Val666Ile
ENST00000643562.1:c.1991G>A	ENSP00000496124.1:p.Gly664Asp
ENST00000644447.1:c.352G>A	ENSP00000496282.1:p.Val118Ile
ENST00000644472.1:c.*360G>A	ENSP00000495378.1:n.*360G>A
ENST00000644484.1:c.*208G>A	ENSP00000493558.1:n.*208G>A
ENST00000644542.1:c.*1701G>A	ENSP00000495532.1:n.*1701G>A
ENST00000644649.1:c.1169G>A
ENST00000644675.1:c.*168G>A	ENSP00000494567.1:n.*168G>A
ENST00000644757.1:c.*301G>A	ENSP00000495085.1:n.*301G>A
ENST00000644772.1:c.2065G>A	ENSP00000494321.1:p.Val689Ile
ENST00000645076.1:c.1251G>A
ENST00000645744.1:c.*360G>A	ENSP00000494564.1:n.*360G>A
ENST00000645760.1:c.2274G>A
ENST00000645884.1:c.1996G>A	ENSP00000495516.1:p.Val666Ile
ENST00000646003.1:c.*137G>A	ENSP00000495259.1:n.*137G>A
ENST00000646207.1:c.*360G>A	ENSP00000495025.1:n.*360G>A
ENST00000646276.1:c.*269G>A	ENSP00000496070.1:n.*269G>A
ENST00000646592.1:c.1222G>A
ENST00000646902.1:c.1996G>A	ENSP00000494101.1:p.Val666Ile
ENST00000646993.1:c.*395G>A	ENSP00000493720.1:n.*395G>A
ENST00000647013.1:c.2002G>A	ENSP00000496741.1:n.2002G>A
ENST00000647015.1:c.1747G>A	ENSP00000495389.1:p.Val583Ile
ENST00000647086.1:c.*1726G>A	ENSP00000493677.1:n.*1726G>A
ENST00000647158.1:c.*137G>A	ENSP00000495744.1:n.*137G>A
ENST00000302539.8:c.1999G>A	ENSP00000303960.4:p.Val667Ile
ENST00000389817.7:c.1999G>A	ENSP00000374467.3:p.Val667Ile
ENST00000527905.5:c.1969G>A	ENSP00000431653.1:p.Val657Ile
NM_000352.4:c.1999G>A	NP_000343.2:p.Val667Ile
NM_001287174.1:c.1999G>A	NP_001274103.1:p.Val667Ile
XM_011520331.1:c.1996G>A	XP_011518633.1:p.Val666Ile
XM_011520332.1:c.1999G>A	XP_011518634.1:p.Val667Ile
XM_011520333.1:c.496G>A	XP_011518635.1:p.Val166Ile
XM_011520334.1:c.1999G>A	XP_011518636.1:p.Val667Ile
XR_930890.1:n.2062G>A
XR_930891.1:n.2062G>A
XR_930892.1:n.2062G>A
XR_930893.1:n.2062G>A
NM_001351295.1:c.2065G>A	NP_001338224.1:p.Val689Ile
NM_001351296.1:c.1996G>A	NP_001338225.1:p.Val666Ile
NM_001351297.1:c.1996G>A	NP_001338226.1:p.Val666Ile
NR_147094.1:n.2065G>A
XM_017018197.2:c.2065G>A	XP_016873686.1:p.Val689Ile
XM_017018199.1:c.2062G>A	XP_016873688.1:p.Val688Ile
XM_017018201.2:c.2065G>A	XP_016873690.1:p.Val689Ile
XM_017018202.1:c.562G>A	XP_016873691.1:p.Val188Ile
XM_017018204.1:c.-45G>A	XP_016873693.1:n.-45G>A
XM_024448668.1:c.364G>A	XP_024304436.1:p.Val122Ile
XR_001747945.2:n.2137G>A
XR_001747946.2:n.2071G>A
XR_002957189.1:n.2137G>A
NM_000352.6:c.1999G>A MANE Select	NP_000343.2:p.Val667Ile
NM_001287174.2:c.1999G>A	NP_001274103.1:p.Val667Ile
NM_001351295.2:c.2065G>A	NP_001338224.1:p.Val689Ile
NM_001351296.2:c.1996G>A	NP_001338225.1:p.Val666Ile
NM_001351297.2:c.1996G>A	NP_001338226.1:p.Val666Ile
NR_147094.2:n.2065G>A
NM_001287174.3:c.1999G>A	NP_001274103.1:p.Val667Ile