Canonical Allele Identifier: CA379782013

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415272A>G (hg19) ; chr11:g.17393725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393725A>G , CM000673.2:g.17393725A>G	GRCh38
NC_000011.9:g.17415272A>G , CM000673.1:g.17415272A>G	GRCh37
NC_000011.8:g.17371848A>G	NCBI36
NG_008867.1:g.88178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4181T>C
ENST00000526037.6:n.515T>C
ENST00000528374.2:c.1171T>C
ENST00000529967.6:n.2919T>C
ENST00000532220.2:n.3813T>C
ENST00000642611.2:n.5913T>C
ENST00000644057.2:n.1156T>C
ENST00000645004.2:n.2079T>C
ENST00000682051.1:n.4742T>C
ENST00000682110.1:n.4795T>C
ENST00000682140.1:c.*366T>C	ENSP00000507829.1:n.*366T>C
ENST00000682185.1:n.5885T>C
ENST00000682204.1:c.*2718T>C	ENSP00000507094.1:n.*2718T>C
ENST00000682215.1:n.5162T>C
ENST00000682288.1:c.*3011T>C	ENSP00000507506.1:n.*3011T>C
ENST00000682442.1:n.5015T>C
ENST00000682528.1:n.4872T>C
ENST00000682673.1:n.4739T>C
ENST00000682805.1:n.5200T>C
ENST00000682965.1:c.*1002T>C	ENSP00000508229.1:n.*1002T>C
ENST00000683093.1:n.5775T>C
ENST00000683136.1:c.4463T>C	ENSP00000507768.1:p.Phe1488Ser
ENST00000683153.1:n.4837T>C
ENST00000683365.1:n.4897T>C
ENST00000683377.1:n.4691T>C
ENST00000683456.1:c.*1717T>C	ENSP00000508318.1:n.*1717T>C
ENST00000683522.1:n.4877T>C
ENST00000683562.1:c.*2645T>C	ENSP00000508265.1:n.*2645T>C
ENST00000683693.1:n.6256T>C
ENST00000683725.1:c.*45T>C	ENSP00000507496.1:n.*45T>C
ENST00000684010.1:n.4790T>C
ENST00000684014.1:n.767T>C
ENST00000684157.1:n.5780T>C
ENST00000684253.1:n.4698T>C
ENST00000684288.1:c.*2752T>C	ENSP00000507143.1:n.*2752T>C
ENST00000684313.1:n.4227T>C
ENST00000684332.1:n.4868T>C
ENST00000684371.1:n.4901T>C
ENST00000684404.1:n.5823T>C
ENST00000684442.1:n.5019T>C
ENST00000684555.1:c.*2792T>C	ENSP00000507705.1:n.*2792T>C
ENST00000684571.1:c.4421T>C	ENSP00000506935.1:p.Phe1474Ser
ENST00000684593.1:c.*4285T>C	ENSP00000507005.1:n.*4285T>C
ENST00000684711.1:c.*2976T>C	ENSP00000506841.1:n.*2976T>C
ENST00000302539.9:c.4583T>C	ENSP00000303960.4:p.Phe1528Ser
ENST00000389817.8:c.4580T>C MANE Select	ENSP00000374467.4:p.Phe1527Ser
ENST00000642271.1:c.4577T>C	ENSP00000493749.1:p.Phe1526Ser
ENST00000642579.1:c.2634T>C
ENST00000642611.1:n.5798T>C
ENST00000642902.1:c.4362T>C
ENST00000643260.1:c.4580T>C	ENSP00000494450.1:p.Phe1527Ser
ENST00000643562.1:c.*2702T>C	ENSP00000496124.1:n.*2702T>C
ENST00000643925.1:c.3185+541T>C
ENST00000644057.1:n.739T>C
ENST00000644484.1:c.*3966T>C	ENSP00000493558.1:n.*3966T>C
ENST00000644675.1:c.*2752T>C	ENSP00000494567.1:n.*2752T>C
ENST00000644757.1:c.*3203-745T>C	ENSP00000495085.1:n.*3203-745T>C
ENST00000644772.1:c.4646T>C	ENSP00000494321.1:p.Phe1549Ser
ENST00000645004.1:n.2273T>C
ENST00000645076.1:c.3675T>C
ENST00000645417.1:c.1768T>C
ENST00000645744.1:c.*4265T>C	ENSP00000494564.1:n.*4265T>C
ENST00000645760.1:c.5001T>C
ENST00000645884.1:c.*1863T>C	ENSP00000495516.1:n.*1863T>C
ENST00000646003.1:c.*2602T>C	ENSP00000495259.1:n.*2602T>C
ENST00000646207.1:c.*3417T>C	ENSP00000495025.1:n.*3417T>C
ENST00000646276.1:c.*3984T>C	ENSP00000496070.1:n.*3984T>C
ENST00000646592.1:c.3886T>C
ENST00000646902.1:c.4547T>C	ENSP00000494101.1:p.Phe1516Ser
ENST00000646993.1:c.*3018T>C	ENSP00000493720.1:n.*3018T>C
ENST00000647015.1:c.4331T>C	ENSP00000495389.1:p.Phe1444Ser
ENST00000647086.1:c.*4166T>C	ENSP00000493677.1:n.*4166T>C
ENST00000647158.1:c.*2867T>C	ENSP00000495744.1:n.*2867T>C
ENST00000302539.8:c.4583T>C	ENSP00000303960.4:p.Phe1528Ser
ENST00000389817.7:c.4580T>C	ENSP00000374467.3:p.Phe1527Ser
ENST00000525022.1:n.475T>C
ENST00000526037.5:n.340T>C
ENST00000526168.5:c.368T>C
ENST00000531642.5:c.611T>C
NM_000352.4:c.4580T>C	NP_000343.2:p.Phe1527Ser
NM_001287174.1:c.4583T>C	NP_001274103.1:p.Phe1528Ser
XM_011520331.1:c.4580T>C	XP_011518633.1:p.Phe1527Ser
XM_011520333.1:c.3080T>C	XP_011518635.1:p.Phe1027Ser
XR_930890.1:n.4542T>C
NM_001351295.1:c.4646T>C	NP_001338224.1:p.Phe1549Ser
NM_001351296.1:c.4580T>C	NP_001338225.1:p.Phe1527Ser
NM_001351297.1:c.4577T>C	NP_001338226.1:p.Phe1526Ser
NR_147094.1:n.4875T>C
XM_017018197.2:c.4649T>C	XP_016873686.1:p.Phe1550Ser
XM_017018199.1:c.4646T>C	XP_016873688.1:p.Phe1549Ser
XM_017018202.1:c.3146T>C	XP_016873691.1:p.Phe1049Ser
XM_017018204.1:c.2537T>C	XP_016873693.1:p.Phe846Ser
XM_024448668.1:c.2948T>C	XP_024304436.1:p.Phe983Ser
XR_001747945.2:n.4617T>C
XR_001747946.2:n.4548T>C
XR_002957189.1:n.6331T>C
NM_000352.6:c.4580T>C MANE Select	NP_000343.2:p.Phe1527Ser
NM_001287174.2:c.4583T>C	NP_001274103.1:p.Phe1528Ser
NM_001351295.2:c.4646T>C	NP_001338224.1:p.Phe1549Ser
NM_001351296.2:c.4580T>C	NP_001338225.1:p.Phe1527Ser
NM_001351297.2:c.4577T>C	NP_001338226.1:p.Phe1526Ser
NR_147094.2:n.4875T>C
NM_001287174.3:c.4583T>C	NP_001274103.1:p.Phe1528Ser