Canonical Allele Identifier: CA473298467

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418502C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396955C>A , CM000673.2:g.17396955C>A	GRCh38
NC_000011.9:g.17418502C>A , CM000673.1:g.17418502C>A	GRCh37
NC_000011.8:g.17375078C>A	NCBI36
NG_008867.1:g.84948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3681G>T
ENST00000528374.2:c.671G>T
ENST00000529967.6:n.2419G>T
ENST00000532220.2:n.2328G>T
ENST00000642611.2:n.4295G>T
ENST00000644057.2:n.523G>T
ENST00000645004.2:n.1579G>T
ENST00000682051.1:n.4242G>T
ENST00000682110.1:n.4295G>T
ENST00000682140.1:c.3985+238G>T	ENSP00000507829.1:n.3985+238G>T
ENST00000682185.1:n.5385G>T
ENST00000682204.1:c.*2218G>T	ENSP00000507094.1:n.*2218G>T
ENST00000682215.1:n.4662G>T
ENST00000682288.1:c.*2511G>T	ENSP00000507506.1:n.*2511G>T
ENST00000682442.1:n.4515G>T
ENST00000682528.1:n.4372G>T
ENST00000682673.1:n.4239G>T
ENST00000682805.1:n.4662G>T
ENST00000682965.1:c.*502G>T	ENSP00000508229.1:n.*502G>T
ENST00000683093.1:n.4394G>T
ENST00000683136.1:c.3963G>T	ENSP00000507768.1:p.Val1321=
ENST00000683153.1:n.4337G>T
ENST00000683365.1:n.4397G>T
ENST00000683377.1:n.4295G>T
ENST00000683456.1:c.*1217G>T	ENSP00000508318.1:n.*1217G>T
ENST00000683522.1:n.4295G>T
ENST00000683562.1:c.*2249G>T	ENSP00000508265.1:n.*2249G>T
ENST00000683693.1:n.4742G>T
ENST00000683725.1:c.4080G>T	ENSP00000507496.1:p.Val1360=
ENST00000684010.1:n.4290G>T
ENST00000684157.1:n.4295G>T
ENST00000684253.1:n.4198G>T
ENST00000684288.1:c.*2252G>T	ENSP00000507143.1:n.*2252G>T
ENST00000684313.1:n.3727G>T
ENST00000684332.1:n.4368G>T
ENST00000684371.1:n.4401G>T
ENST00000684404.1:n.4338G>T
ENST00000684442.1:n.4519G>T
ENST00000684555.1:c.*2292G>T	ENSP00000507705.1:n.*2292G>T
ENST00000684571.1:c.3921G>T	ENSP00000506935.1:p.Val1307=
ENST00000684593.1:c.*3785G>T	ENSP00000507005.1:n.*3785G>T
ENST00000684711.1:c.*2476G>T	ENSP00000506841.1:n.*2476G>T
ENST00000302539.9:c.4083G>T	ENSP00000303960.4:p.Val1361=
ENST00000389817.8:c.4080G>T MANE Select	ENSP00000374467.4:p.Val1360=
ENST00000642271.1:c.4077G>T	ENSP00000493749.1:p.Val1359=
ENST00000642579.1:c.2134G>T
ENST00000642611.1:n.4180G>T
ENST00000642902.1:c.3862G>T
ENST00000643260.1:c.4080G>T	ENSP00000494450.1:p.Val1360=
ENST00000643562.1:c.*2202G>T	ENSP00000496124.1:n.*2202G>T
ENST00000643925.1:c.2720G>T
ENST00000644057.1:n.157G>T
ENST00000644484.1:c.*2481G>T	ENSP00000493558.1:n.*2481G>T
ENST00000644675.1:c.*2252G>T	ENSP00000494567.1:n.*2252G>T
ENST00000644757.1:c.*2511G>T	ENSP00000495085.1:n.*2511G>T
ENST00000644772.1:c.4146G>T	ENSP00000494321.1:p.Val1382=
ENST00000645004.1:n.1735G>T
ENST00000645076.1:c.3279G>T
ENST00000645417.1:c.1268G>T
ENST00000645744.1:c.*2860G>T	ENSP00000494564.1:n.*2860G>T
ENST00000645760.1:c.4501G>T
ENST00000645884.1:c.*1363G>T	ENSP00000495516.1:n.*1363G>T
ENST00000646003.1:c.*2182G>T	ENSP00000495259.1:n.*2182G>T
ENST00000646207.1:c.*2917G>T	ENSP00000495025.1:n.*2917G>T
ENST00000646276.1:c.*2499G>T	ENSP00000496070.1:n.*2499G>T
ENST00000646592.1:c.3386G>T
ENST00000646902.1:c.4047G>T	ENSP00000494101.1:p.Val1349=
ENST00000646993.1:c.*2622G>T	ENSP00000493720.1:n.*2622G>T
ENST00000647013.1:c.4086G>T	ENSP00000496741.1:n.4086G>T
ENST00000647015.1:c.3831G>T	ENSP00000495389.1:p.Val1277=
ENST00000647086.1:c.*3666G>T	ENSP00000493677.1:n.*3666G>T
ENST00000647158.1:c.*2367G>T	ENSP00000495744.1:n.*2367G>T
ENST00000302539.8:c.4083G>T	ENSP00000303960.4:p.Val1361=
ENST00000389817.7:c.4080G>T	ENSP00000374467.3:p.Val1360=
ENST00000527905.5:c.*1102G>T	ENSP00000431653.1:n.*1102G>T
ENST00000528374.1:c.562G>T
ENST00000531137.1:n.645G>T
ENST00000531891.1:c.418G>T
ENST00000532220.1:n.554G>T
NM_000352.4:c.4080G>T	NP_000343.2:p.Val1360=
NM_001287174.1:c.4083G>T	NP_001274103.1:p.Val1361=
XM_011520331.1:c.4080G>T	XP_011518633.1:p.Val1360=
XM_011520332.1:c.4083G>T	XP_011518634.1:p.Val1361=
XM_011520333.1:c.2580G>T	XP_011518635.1:p.Val860=
XR_930890.1:n.4146G>T
NM_001351295.1:c.4146G>T	NP_001338224.1:p.Val1382=
NM_001351296.1:c.4080G>T	NP_001338225.1:p.Val1360=
NM_001351297.1:c.4077G>T	NP_001338226.1:p.Val1359=
NR_147094.1:n.4375G>T
XM_017018197.2:c.4149G>T	XP_016873686.1:p.Val1383=
XM_017018199.1:c.4146G>T	XP_016873688.1:p.Val1382=
XM_017018201.2:c.4149G>T	XP_016873690.1:p.Val1383=
XM_017018202.1:c.2646G>T	XP_016873691.1:p.Val882=
XM_017018204.1:c.2037G>T	XP_016873693.1:p.Val679=
XM_024448668.1:c.2448G>T	XP_024304436.1:p.Val816=
XR_001747945.2:n.4221G>T
XR_001747946.2:n.4152G>T
XR_002957189.1:n.4817G>T
NM_000352.6:c.4080G>T MANE Select	NP_000343.2:p.Val1360=
NM_001287174.2:c.4083G>T	NP_001274103.1:p.Val1361=
NM_001351295.2:c.4146G>T	NP_001338224.1:p.Val1382=
NM_001351296.2:c.4080G>T	NP_001338225.1:p.Val1360=
NM_001351297.2:c.4077G>T	NP_001338226.1:p.Val1359=
NR_147094.2:n.4375G>T
NM_001287174.3:c.4083G>T	NP_001274103.1:p.Val1361=