Canonical Allele Identifier: CA379781407

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414648C>A (hg19) ; chr11:g.17393101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393101C>A , CM000673.2:g.17393101C>A	GRCh38
NC_000011.9:g.17414648C>A , CM000673.1:g.17414648C>A	GRCh37
NC_000011.8:g.17371224C>A	NCBI36
NG_008867.1:g.88802G>T
NG_012446.1:g.559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4237G>T
ENST00000526037.6:n.571G>T
ENST00000528374.2:c.1227G>T
ENST00000529967.6:n.2975G>T
ENST00000532220.2:n.3869G>T
ENST00000642611.2:n.5969G>T
ENST00000644057.2:n.1212G>T
ENST00000645004.2:n.2135G>T
ENST00000682051.1:n.4798G>T
ENST00000682110.1:n.4851G>T
ENST00000682140.1:c.*422G>T	ENSP00000507829.1:n.*422G>T
ENST00000682185.1:n.5941G>T
ENST00000682204.1:c.*2774G>T	ENSP00000507094.1:n.*2774G>T
ENST00000682215.1:n.5218G>T
ENST00000682288.1:c.*3067G>T	ENSP00000507506.1:n.*3067G>T
ENST00000682442.1:n.5071G>T
ENST00000682528.1:n.4928G>T
ENST00000682673.1:n.4795G>T
ENST00000682805.1:n.5256G>T
ENST00000682965.1:c.*1058G>T	ENSP00000508229.1:n.*1058G>T
ENST00000683093.1:n.5831G>T
ENST00000683136.1:c.4519G>T	ENSP00000507768.1:p.Asp1507Tyr
ENST00000683153.1:n.4893G>T
ENST00000683365.1:n.4953G>T
ENST00000683377.1:n.4747G>T
ENST00000683456.1:c.*1773G>T	ENSP00000508318.1:n.*1773G>T
ENST00000683522.1:n.4933G>T
ENST00000683562.1:c.*2701G>T	ENSP00000508265.1:n.*2701G>T
ENST00000683693.1:n.6312G>T
ENST00000683725.1:c.*101G>T	ENSP00000507496.1:n.*101G>T
ENST00000684010.1:n.4846G>T
ENST00000684014.1:n.823G>T
ENST00000684157.1:n.5836G>T
ENST00000684253.1:n.4754G>T
ENST00000684288.1:c.*2808G>T	ENSP00000507143.1:n.*2808G>T
ENST00000684313.1:n.4283G>T
ENST00000684332.1:n.4924G>T
ENST00000684371.1:n.4957G>T
ENST00000684404.1:n.5879G>T
ENST00000684442.1:n.5075G>T
ENST00000684555.1:c.*2848G>T	ENSP00000507705.1:n.*2848G>T
ENST00000684571.1:c.4477G>T	ENSP00000506935.1:p.Asp1493Tyr
ENST00000684593.1:c.*4341G>T	ENSP00000507005.1:n.*4341G>T
ENST00000684711.1:c.*3032G>T	ENSP00000506841.1:n.*3032G>T
ENST00000302539.9:c.4639G>T	ENSP00000303960.4:p.Asp1547Tyr
ENST00000389817.8:c.4636G>T MANE Select	ENSP00000374467.4:p.Asp1546Tyr
ENST00000642271.1:c.4633G>T	ENSP00000493749.1:p.Asp1545Tyr
ENST00000642579.1:c.2690G>T
ENST00000642611.1:n.5854G>T
ENST00000642902.1:c.4418G>T
ENST00000643260.1:c.4636G>T	ENSP00000494450.1:p.Asp1546Tyr
ENST00000643562.1:c.*2758G>T	ENSP00000496124.1:n.*2758G>T
ENST00000643925.1:c.3213G>T
ENST00000644057.1:n.795G>T
ENST00000644484.1:c.*4022G>T	ENSP00000493558.1:n.*4022G>T
ENST00000644675.1:c.*2808G>T	ENSP00000494567.1:n.*2808G>T
ENST00000644757.1:c.*3203-121G>T	ENSP00000495085.1:n.*3203-121G>T
ENST00000644772.1:c.4702G>T	ENSP00000494321.1:p.Asp1568Tyr
ENST00000645004.1:n.2329G>T
ENST00000645076.1:c.3731G>T
ENST00000645417.1:c.1824G>T
ENST00000645760.1:c.5057G>T
ENST00000645884.1:c.*1919G>T	ENSP00000495516.1:n.*1919G>T
ENST00000646003.1:c.*2658G>T	ENSP00000495259.1:n.*2658G>T
ENST00000646207.1:c.*3473G>T	ENSP00000495025.1:n.*3473G>T
ENST00000646276.1:c.*4040G>T	ENSP00000496070.1:n.*4040G>T
ENST00000646592.1:c.3942G>T
ENST00000646902.1:c.4603G>T	ENSP00000494101.1:p.Asp1535Tyr
ENST00000646993.1:c.*3074G>T	ENSP00000493720.1:n.*3074G>T
ENST00000647015.1:c.4387G>T	ENSP00000495389.1:p.Asp1463Tyr
ENST00000647086.1:c.*4222G>T	ENSP00000493677.1:n.*4222G>T
ENST00000647158.1:c.*2923G>T	ENSP00000495744.1:n.*2923G>T
ENST00000302539.8:c.4639G>T	ENSP00000303960.4:p.Asp1547Tyr
ENST00000389817.7:c.4636G>T	ENSP00000374467.3:p.Asp1546Tyr
ENST00000525022.1:n.615G>T
ENST00000526037.5:n.396G>T
ENST00000526168.5:c.424G>T
ENST00000531642.5:c.667G>T
NM_000352.4:c.4636G>T	NP_000343.2:p.Asp1546Tyr
NM_001287174.1:c.4639G>T	NP_001274103.1:p.Asp1547Tyr
XM_011520331.1:c.4636G>T	XP_011518633.1:p.Asp1546Tyr
XM_011520333.1:c.3136G>T	XP_011518635.1:p.Asp1046Tyr
XR_930890.1:n.4598G>T
NM_001351295.1:c.4702G>T	NP_001338224.1:p.Asp1568Tyr
NM_001351296.1:c.4636G>T	NP_001338225.1:p.Asp1546Tyr
NM_001351297.1:c.4633G>T	NP_001338226.1:p.Asp1545Tyr
NR_147094.1:n.4931G>T
XM_017018197.2:c.4705G>T	XP_016873686.1:p.Asp1569Tyr
XM_017018199.1:c.4702G>T	XP_016873688.1:p.Asp1568Tyr
XM_017018202.1:c.3202G>T	XP_016873691.1:p.Asp1068Tyr
XM_017018204.1:c.2593G>T	XP_016873693.1:p.Asp865Tyr
XM_024448668.1:c.3004G>T	XP_024304436.1:p.Asp1002Tyr
XR_001747945.2:n.4673G>T
XR_001747946.2:n.4604G>T
XR_002957189.1:n.6387G>T
NM_000352.6:c.4636G>T MANE Select	NP_000343.2:p.Asp1546Tyr
NM_001287174.2:c.4639G>T	NP_001274103.1:p.Asp1547Tyr
NM_001351295.2:c.4702G>T	NP_001338224.1:p.Asp1568Tyr
NM_001351296.2:c.4636G>T	NP_001338225.1:p.Asp1546Tyr
NM_001351297.2:c.4633G>T	NP_001338226.1:p.Asp1545Tyr
NR_147094.2:n.4931G>T
NM_001287174.3:c.4639G>T	NP_001274103.1:p.Asp1547Tyr